Variant report

Variant	esv3409347
Chromosome Location	chr3:48697698-48701896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1228)
CpG islands
(count:1408)
Chromatin interactive
region (count:47)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1228 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:48701030-48701753	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:48699155-48699487	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:48700408-48700488	K562	blood:	n/a	n/a
4	ATF1	chr3:48701007-48701774	K562	blood:	n/a	n/a
5	ATF2	chr3:48700262-48700600	GM12878	blood:	n/a	n/a
6	ATF2	chr3:48700147-48701888	H1-hESC	embryonic stem cell:	n/a	chr3:48701193-48701204
7	ATF2	chr3:48700178-48701952	H1-hESC	embryonic stem cell:	n/a	chr3:48701193-48701204
8	ATF2	chr3:48699005-48699484	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr3:48699029-48699495	GM12878	blood:	n/a	n/a
10	ATF2	chr3:48700989-48701856	GM12878	blood:	n/a	chr3:48701193-48701204
11	ATF2	chr3:48699086-48699504	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr3:48700966-48701916	GM12878	blood:	n/a	chr3:48701193-48701204
13	ATF3	chr3:48701406-48701753	K562	blood:	n/a	n/a
14	BACH1	chr3:48699217-48699288	K562	blood:	n/a	n/a
15	BACH1	chr3:48700979-48700993	K562	blood:	n/a	n/a
16	BACH1	chr3:48700567-48701517	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr3:48699166-48699374	GM12878	blood:	n/a	n/a
18	BCL3	chr3:48700808-48701884	A549	lung:	n/a	chr3:48701013-48701026
19	BCL3	chr3:48700899-48701770	GM12878	blood:	n/a	chr3:48701013-48701026
20	BCL3	chr3:48700450-48701846	A549	lung:	n/a	chr3:48700546-48700554 chr3:48701013-48701026
21	BCLAF1	chr3:48699066-48699452	GM12878	blood:	n/a	n/a
22	BCLAF1	chr3:48700975-48701814	GM12878	blood:	n/a	chr3:48701013-48701026
23	BHLHE40	chr3:48700806-48701766	HepG2	liver:	n/a	n/a
24	BHLHE40	chr3:48700943-48701590	A549	lung:	n/a	n/a
25	BHLHE40	chr3:48699110-48699482	GM12878	blood:	n/a	n/a
26	BHLHE40	chr3:48700917-48701339	HepG2	liver:	n/a	n/a
27	BHLHE40	chr3:48700188-48700572	HepG2	liver:	n/a	chr3:48700294-48700310
28	BHLHE40	chr3:48700194-48701812	K562	blood:	n/a	chr3:48700294-48700310
29	BHLHE40	chr3:48700227-48700559	A549	lung:	n/a	chr3:48700294-48700310
30	BHLHE40	chr3:48700929-48701827	GM12878	blood:	n/a	n/a
31	BHLHE40	chr3:48699134-48699469	K562	blood:	n/a	n/a
32	BHLHE40	chr3:48700178-48700639	GM12878	blood:	n/a	chr3:48700294-48700310
33	BRCA1	chr3:48700334-48700446	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr3:48700977-48701799	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr3:48701219-48701501	GM12878	blood:	n/a	n/a
36	BRCA1	chr3:48700245-48701720	H1-hESC	embryonic stem cell:	n/a	n/a
37	BRCA1	chr3:48700453-48700628	GM12878	blood:	n/a	n/a
38	BRCA1	chr3:48700751-48701689	HepG2	liver:	n/a	n/a
39	CBX3	chr3:48700754-48701404	K562	blood:	n/a	n/a
40	CBX3	chr3:48699154-48699414	K562	blood:	n/a	n/a
41	CBX3	chr3:48700937-48701250	K562	blood:	n/a	n/a
42	CBX3	chr3:48700196-48700585	K562	blood:	n/a	n/a
43	CBX3	chr3:48698904-48699488	K562	blood:	n/a	n/a
44	CCNT2	chr3:48698523-48698566	K562	blood:	n/a	n/a
45	CCNT2	chr3:48699109-48699466	K562	blood:	n/a	n/a
46	CCNT2	chr3:48700248-48700456	K562	blood:	n/a	n/a
47	CCNT2	chr3:48700859-48701770	K562	blood:	n/a	chr3:48701280-48701289 chr3:48701309-48701318 chr3:48701038-48701047
48	CEBPB	chr3:48700827-48701698	HepG2	liver:	n/a	n/a
49	CEBPB	chr3:48698992-48698999	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr3:48700895-48701333	K562	blood:	n/a	n/a

(count:1408 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48699373-48699423	HCPEpiC	choroid plexus:	n/a
2	chr3:48701662-48701712	AoSMC	blood vessel:	n/a
3	chr3:48699637-48699687	GM19239	blood:	n/a
4	chr3:48700269-48700319	AG04450	lung:	fetal
5	chr3:48700475-48700525	AG09319	gingival:	n/a
6	chr3:48699373-48699423	HCPEpiC	choroid plexus:	n/a
7	chr3:48701662-48701712	AoSMC	blood vessel:	n/a
8	chr3:48699637-48699687	GM19239	blood:	n/a
9	chr3:48700269-48700319	AG04450	lung:	fetal
10	chr3:48700475-48700525	AG09319	gingival:	n/a
11	chr3:48699373-48699423	BE2_C	brain:	n/a
12	chr3:48699090-48699140	BJ	skin:	n/a
13	chr3:48701666-48701716	SK-N-SH	brain:	n/a
14	chr3:48700269-48700319	HAEpiC	amniotic membrane:	n/a
15	chr3:48699090-48699140	A549	lung:	n/a
16	chr3:48701061-48701111	SK-N-SH	brain:	n/a
17	chr3:48698519-48698569	PrEC	prostate:	n/a
18	chr3:48700498-48700548	BE2_C	brain:	n/a
19	chr3:48697682-48697732	GM19239	blood:	n/a
20	chr3:48700269-48700319	HepG2	liver:	n/a
21	chr3:48701061-48701111	HCT-116	colon:	n/a
22	chr3:48700375-48700425	GM06990	blood:	n/a
23	chr3:48701061-48701111	GM12878	blood:	n/a
24	chr3:48698519-48698569	GM06990	blood:	n/a
25	chr3:48700391-48700441	SAEC	small airway:	n/a
26	chr3:48698519-48698569	K562	blood:	n/a
27	chr3:48701553-48701603	LNCaP	prostate:	n/a
28	chr3:48701666-48701716	AoSMC	blood vessel:	n/a
29	chr3:48701662-48701712	ProgFib	skin:	n/a
30	chr3:48699012-48699062	A549	lung:	n/a
31	chr3:48699012-48699062	GM12878	blood:	n/a
32	chr3:48700475-48700525	NHDF-neo	bronchial:	n/a
33	chr3:48699637-48699687	MCF10A-Er-Src	breast:	n/a
34	chr3:48698519-48698569	Hela-S3	cervix:	n/a
35	chr3:48700375-48700425	NHDF-neo	bronchial:	n/a
36	chr3:48701061-48701111	GM06990	blood:	n/a
37	chr3:48700443-48700493	HMEC	breast:	n/a
38	chr3:48701666-48701716	HEK293	kidney:	embryo
39	chr3:48701666-48701716	K562	blood:	n/a
40	chr3:48701553-48701603	U87	brain:	n/a
41	chr3:48700443-48700493	HCPEpiC	choroid plexus:	n/a
42	chr3:48699090-48699140	GM12892	blood:	n/a
43	chr3:48699637-48699687	AG09319	gingival:	n/a
44	chr3:48699373-48699423	HEEpiC	esophagus:	n/a
45	chr3:48700391-48700441	H1-hESC	embryonic stem cell:	embryo
46	chr3:48701666-48701716	BE2_C	brain:	n/a
47	chr3:48701061-48701111	SK-N-SH_RA	brain:	n/a
48	chr3:48700498-48700548	H1-hESC	embryonic stem cell:	embryo
49	chr3:48701666-48701716	AG10803	skin:	n/a
50	chr3:48700337-48700387	HRE	kidney:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48675163..48677992-chr3:48697938..48699928,2	K562	blood:
2	chr3:48699573..48703813-chr3:48719476..48724654,10	MCF-7	breast:
3	chr3:48678137..48679650-chr3:48699747..48701923,2	MCF-7	breast:
4	chr3:48663872..48666244-chr3:48699915..48701423,2	K562	blood:
5	chr3:48701214..48702790-chr3:48729713..48732304,2	MCF-7	breast:
6	chr3:48697809..48699544-chr3:49049957..49052349,2	MCF-7	breast:
7	chr3:48680179..48682493-chr3:48699784..48702712,4	MCF-7	breast:
8	chr3:48670764..48674544-chr3:48698929..48702803,9	K562	blood:
9	chr12:49658706..49659664-chr3:48701118..48701884,2	Hela-S3	cervix:
10	chr3:48699225..48701604-chr3:48731929..48734312,2	MCF-7	breast:
11	chr3:48669152..48670983-chr3:48700604..48702658,2	MCF-7	breast:
12	chr3:48670764..48674544-chr3:48699167..48702803,6	K562	blood:
13	chr3:48686566..48688475-chr3:48697453..48700260,2	MCF-7	breast:
14	chr3:48647141..48648853-chr3:48697785..48700969,3	MCF-7	breast:
15	chr3:48701542..48702318-chr3:48722913..48723797,2	K562	blood:
16	chr3:48698738..48703197-chr3:48713751..48717809,8	K562	blood:
17	chr3:48700692..48701281-chr8:146017898..146018600,2	HCT-116	colon:
18	chr3:48699555..48701541-chr3:49130676..49133286,2	K562	blood:
19	chr3:48540047..48541842-chr3:48700022..48702495,2	MCF-7	breast:
20	chr3:48700292..48701937-chr3:48721950..48724599,2	K562	blood:
21	chr16:11836302..11836972-chr3:48700374..48700912,2	HCT-116	colon:
22	chr3:48699299..48703873-chr3:48715927..48726939,20	MCF-7	breast:
23	chr3:48678686..48683466-chr3:48696483..48700259,5	K562	blood:
24	chr3:48678987..48680520-chr3:48698680..48701564,2	K562	blood:
25	chr3:48686766..48690063-chr3:48696074..48699163,3	MCF-7	breast:
26	chr3:48602276..48604378-chr3:48697664..48699278,2	K562	blood:
27	chr3:48695950..48699824-chr3:48710158..48713070,3	K562	blood:
28	chr3:48596168..48597991-chr3:48701051..48702925,2	K562	blood:
29	chr3:48699257..48701574-chr3:49057854..49059590,2	K562	blood:
30	chr3:48700180..48704062-chr3:48721751..48723924,3	K562	blood:
31	chr3:48701660..48704427-chr3:48712006..48713565,2	K562	blood:
32	chr3:48698197..48700148-chr3:48700175..48701734,2	MCF-7	breast:
33	chr3:48700863..48702620-chr3:48955867..48958209,2	K562	blood:
34	chr3:48699840..48702093-chr3:49056482..49059004,2	MCF-7	breast:
35	chr12:53472772..53473360-chr3:48700433..48700978,2	Hela-S3	cervix:
36	chr3:48667529..48675453-chr3:48697968..48703139,10	MCF-7	breast:
37	chr3:48670997..48674874-chr3:48698947..48702118,7	MCF-7	breast:
38	chr3:48488018..48489854-chr3:48700311..48702050,2	K562	blood:
39	chr3:48659070..48661619-chr3:48697247..48699239,2	K562	blood:
40	chr3:48701472..48702142-chr3:48722865..48723405,2	MCF-7	breast:
41	chr3:48700103..48702620-chr3:48955233..48957367,3	K562	blood:
42	chr3:48593030..48597118-chr3:48698507..48702121,6	MCF-7	breast:
43	chr3:48678686..48681268-chr3:48696483..48698297,2	K562	blood:
44	chr3:48698351..48700757-chr3:49057854..49060697,2	K562	blood:
45	chr3:48700630..48703207-chr3:49044613..49046334,2	K562	blood:
46	chr3:48698129..48704726-chr3:48706101..48715056,13	MCF-7	breast:
47	chr15:35261395..35262156-chr3:48700550..48701362,2	Hela-S3	cervix:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TREX1-1	chr3:48701209-48701246	ENSG00000228350.1

No data

Variant related genes	Relation type
CELSR3	TF binding region
ENSG00000228350	TF binding region
CELSR3	CpG island
ENSG00000228350	CpG island
ENSG00000263898	chromatin interactions
ENSG00000178252	chromatin interactions
ENSG00000010256	chromatin interactions
ENSG00000207605	chromatin interactions
ENSG00000271973	chromatin interactions
ENSG00000021776	chromatin interactions
ENSG00000213672	chromatin interactions
ENSG00000164054	chromatin interactions
ENSG00000228350	chromatin interactions
ENSG00000198218	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000068745	chromatin interactions
ENSG00000161016	chromatin interactions
ENSG00000114268	chromatin interactions
ENSG00000153066	chromatin interactions
ENSG00000177479	chromatin interactions
ENSG00000199032	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000183396	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000225697	chromatin interactions
ENSG00000008300	chromatin interactions
ENSG00000221883	chromatin interactions
ENSG00000167778	chromatin interactions
ENSG00000114270	chromatin interactions

Extended variants
information (count: 184 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572059170	chr3:48697705-48697706	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs61729421	chr3:48697720-48697721	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs370659472	chr3:48697736-48697737	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs116282258	chr3:48697737-48697738	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs560726113	chr3:48697749-48697750	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs531409336	chr3:48697773-48697774	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs200579374	chr3:48697775-48697776	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs373918080	chr3:48697782-48697783	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs367800000	chr3:48697804-48697805	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs193020039	chr3:48697811-48697812	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs138245512	chr3:48697821-48697822	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs145148789	chr3:48697823-48697824	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs184868266	chr3:48697838-48697839	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs370107615	chr3:48697847-48697848	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs146299792	chr3:48697859-48697860	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs547287027	chr3:48697864-48697865	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs188549733	chr3:48697882-48697883	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs529940314	chr3:48697893-48697894	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs199769009	chr3:48697921-48697922	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs567566101	chr3:48697978-48697979	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs191733320	chr3:48697990-48697991	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs374630213	chr3:48698012-48698013	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs112965073	chr3:48698040-48698041	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs139551684	chr3:48698045-48698046	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs372019621	chr3:48698057-48698058	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs149724878	chr3:48698097-48698098	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs376345083	chr3:48698103-48698104	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs140688880	chr3:48698107-48698108	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs149033561	chr3:48698188-48698189	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs368128778	chr3:48698225-48698226	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs372195586	chr3:48698232-48698233	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs143056512	chr3:48698249-48698250	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs201943617	chr3:48698268-48698269	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs113140335	chr3:48698295-48698296	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs373208615	chr3:48698318-48698319	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs377387303	chr3:48698385-48698386	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs553764256	chr3:48698392-48698393	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs138985126	chr3:48698418-48698419	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs200733728	chr3:48698424-48698425	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs369539982	chr3:48698430-48698431	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs543367014	chr3:48698444-48698445	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs199908113	chr3:48698471-48698472	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs532975649	chr3:48698474-48698475	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs572369761	chr3:48698478-48698479	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs575988114	chr3:48698500-48698501	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs543483822	chr3:48698501-48698502	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs564877682	chr3:48698553-48698554	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs371842449	chr3:48698576-48698577	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs374679965	chr3:48698592-48698593	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs369845082	chr3:48698618-48698619	Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48694000-48698800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:48694200-48698400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:48694200-48698600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:48694200-48698600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:48694200-48698600	Weak transcription	HSMMtube	muscle
6	chr3:48694200-48699000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:48694400-48698200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:48694400-48698600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:48694400-48698600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:48694400-48698800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:48694400-48698800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:48694400-48698800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:48694400-48698800	Weak transcription	HUVEC	blood vessel
14	chr3:48694600-48698800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr3:48694600-48698800	Weak transcription	Brain Substantia Nigra	brain
16	chr3:48694800-48698600	Weak transcription	Left Ventricle	heart
17	chr3:48694800-48698800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:48694800-48698800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:48694800-48698800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:48695000-48698200	Weak transcription	Pancreas	Pancrea
21	chr3:48695000-48698200	Weak transcription	Right Ventricle	heart
22	chr3:48695000-48698800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:48695400-48698600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:48695600-48698000	Genic enhancers	Brain Germinal Matrix	brain
25	chr3:48695600-48698200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:48695600-48698400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:48695600-48698400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:48695800-48698000	Strong transcription	Brain Anterior Caudate	brain
29	chr3:48695800-48698200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:48695800-48698400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:48695800-48698400	Strong transcription	Brain Cingulate Gyrus	brain
32	chr3:48696200-48697800	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr3:48696200-48698400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:48696200-48698400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:48696200-48698600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:48696200-48698800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr3:48696400-48698000	Strong transcription	HepG2	liver
38	chr3:48696400-48698400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:48696400-48698600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:48696600-48698600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:48696800-48697800	Strong transcription	A549	lung
42	chr3:48696800-48698000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:48696800-48698600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:48696800-48698600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:48696800-48699000	Enhancers	Spleen	Spleen
46	chr3:48697200-48697800	Genic enhancers	Fetal Brain Male	brain
47	chr3:48697200-48699000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:48697400-48697800	Strong transcription	Brain Hippocampus Middle	brain
49	chr3:48697400-48698000	Genic enhancers	Fetal Brain Female	brain
50	chr3:48697600-48698200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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