Variant report

Variant	esv3430072
Chromosome Location	chr3:48668048-48673146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:650)
CpG islands
(count:794)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:48672973-48673415	HepG2	liver:	n/a	n/a
2	ATF2	chr3:48672792-48673475	GM12878	blood:	n/a	n/a
3	ATF2	chr3:48673006-48673496	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr3:48672075-48672426	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr3:48672241-48672257	K562	blood:	n/a	n/a
6	BACH1	chr3:48672446-48672608	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr3:48672851-48673425	GM12878	blood:	n/a	chr3:48673090-48673106 chr3:48673136-48673152
8	BHLHE40	chr3:48672395-48672558	K562	blood:	n/a	n/a
9	BHLHE40	chr3:48672780-48673509	K562	blood:	n/a	chr3:48673090-48673106 chr3:48673136-48673152
10	BHLHE40	chr3:48672714-48673457	HepG2	liver:	n/a	chr3:48673090-48673106 chr3:48673136-48673152
11	BRCA1	chr3:48673095-48673405	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr3:48672863-48673072	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr3:48672795-48672955	HepG2	liver:	n/a	n/a
14	BRCA1	chr3:48672217-48672313	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr3:48672667-48673106	K562	blood:	n/a	n/a
16	CCNT2	chr3:48672454-48673417	K562	blood:	n/a	chr3:48672639-48672648
17	CEBPB	chr3:48672721-48673067	Hela-S3	cervix:	n/a	n/a
18	CEBPD	chr3:48672621-48673302	HepG2	liver:	n/a	n/a
19	CHD1	chr3:48672217-48672799	H1-hESC	embryonic stem cell:	n/a	chr3:48672629-48672639
20	CHD1	chr3:48672749-48673211	GM12878	blood:	n/a	chr3:48673006-48673016 chr3:48673078-48673088
21	CHD2	chr3:48672679-48673476	GM12878	blood:	n/a	chr3:48673006-48673016 chr3:48673078-48673088
22	CHD2	chr3:48672742-48673125	K562	blood:	n/a	chr3:48673006-48673016 chr3:48673078-48673088
23	CHD2	chr3:48672268-48673418	Hela-S3	cervix:	n/a	chr3:48672629-48672639 chr3:48673006-48673016 chr3:48673078-48673088
24	CHD2	chr3:48672595-48673546	H1-hESC	embryonic stem cell:	n/a	chr3:48672629-48672639 chr3:48673006-48673016 chr3:48673078-48673088
25	CHD2	chr3:48672695-48673383	HepG2	liver:	n/a	chr3:48673006-48673016 chr3:48673078-48673088
26	CHD2	chr3:48672268-48672360	K562	blood:	n/a	n/a
27	CREB1	chr3:48672110-48673742	HepG2	liver:	n/a	n/a
28	CREB1	chr3:48672734-48673186	A549	lung:	n/a	n/a
29	CTCF	chr3:48672740-48672890	MCF-7	breast:	n/a	n/a
30	CTCF	chr3:48672740-48672890	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr3:48672752-48672967	MCF-7	breast:	n/a	chr3:48672884-48672900
32	CTCF	chr3:48672764-48672964	Fibrobl	skin:	n/a	chr3:48672884-48672900
33	CTCF	chr3:48672800-48672950	HBMEC	blood vessel:	n/a	chr3:48672884-48672900
34	CTCF	chr3:48672780-48672930	GM12864	blood:	n/a	chr3:48672884-48672900
35	CTCF	chr3:48672780-48672930	AG04450	lung:	n/a	chr3:48672884-48672900
36	CTCF	chr3:48672800-48672950	AG04449	skin:	n/a	chr3:48672884-48672900
37	CTCF	chr3:48673137-48673138	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr3:48672757-48673115	MCF-7	breast:	n/a	chr3:48672884-48672900
39	CTCF	chr3:48673068-48673489	HepG2	liver:	n/a	chr3:48673315-48673328
40	CTCF	chr3:48672696-48673526	IMR90	lung:	n/a	chr3:48673315-48673328 chr3:48672884-48672900
41	CTCF	chr3:48672800-48672950	HPF	lung:	n/a	chr3:48672884-48672900
42	CTCF	chr3:48672520-48672670	BJ	skin:	n/a	n/a
43	CTCF	chr3:48672820-48672970	K562	blood:	n/a	chr3:48672884-48672900
44	CTCF	chr3:48672780-48672930	HCM	heart:	n/a	chr3:48672884-48672900
45	CTCF	chr3:48672774-48673132	Kidney_OC	kidney:	n/a	chr3:48672884-48672900
46	CTCF	chr3:48672732-48672954	H1-hESC	embryonic stem cell:	n/a	chr3:48672884-48672900
47	CTCF	chr3:48672800-48672950	HMF	breast:	n/a	chr3:48672884-48672900
48	CTCF	chr3:48673027-48673450	Hela-S3	cervix:	n/a	chr3:48673315-48673328
49	CTCF	chr3:48672860-48673010	HVMF	connective:	n/a	chr3:48672884-48672900
50	CTCF	chr3:48672777-48672999	MCF-7	breast:	n/a	chr3:48672884-48672900

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48670410-48670460	LNCaP	prostate:	n/a
2	chr3:48670410-48670460	LNCaP	prostate:	n/a
3	chr3:48673083-48673133	HCPEpiC	choroid plexus:	n/a
4	chr3:48673137-48673187	SK-N-SH	brain:	n/a
5	chr3:48672407-48672457	MCF-7	breast:	n/a
6	chr3:48670922-48670972	GM19239	blood:	n/a
7	chr3:48672977-48673027	MCF-7	breast:	n/a
8	chr3:48672975-48673025	GM06990	blood:	n/a
9	chr3:48672977-48673027	RPTEC	kidney:	n/a
10	chr3:48670922-48670972	H1-hESC	embryonic stem cell:	embryo
11	chr3:48671337-48671387	IMR90	lung:	fetal
12	chr3:48672629-48672679	Hela-S3	cervix:	n/a
13	chr3:48672407-48672457	SK-N-SH	brain:	n/a
14	chr3:48673083-48673133	HRPEpiC	eye:	n/a
15	chr3:48670922-48670972	ProgFib	skin:	n/a
16	chr3:48672975-48673025	H1-hESC	embryonic stem cell:	embryo
17	chr3:48671337-48671387	ovcar-3	ovarian:	n/a
18	chr3:48669774-48669824	AoSMC	blood vessel:	n/a
19	chr3:48673001-48673051	A549	lung:	n/a
20	chr3:48672407-48672457	HRCEpiC	kidney:	n/a
21	chr3:48673083-48673133	GM06990	blood:	n/a
22	chr3:48673001-48673051	NB4	blood:	n/a
23	chr3:48672629-48672679	CMK	blood:	n/a
24	chr3:48672977-48673027	HL-60	blood:	n/a
25	chr3:48672629-48672679	PFSK-1	brain:	n/a
26	chr3:48672975-48673025	RPTEC	kidney:	n/a
27	chr3:48670922-48670972	SK-N-SH_RA	brain:	n/a
28	chr3:48669774-48669824	MCF-7	breast:	n/a
29	chr3:48669774-48669824	AG10803	skin:	n/a
30	chr3:48673137-48673187	SK-N-MC	brain:	n/a
31	chr3:48672977-48673027	HRE	kidney:	n/a
32	chr3:48673083-48673133	HEK293	kidney:	embryo
33	chr3:48673001-48673051	AG09309	skin:	n/a
34	chr3:48672407-48672457	NHBE	bronchial:	n/a
35	chr3:48670922-48670972	HUVEC	blood vessel:	n/a
36	chr3:48671337-48671387	A549	lung:	n/a
37	chr3:48672977-48673027	HEK293	kidney:	embryo
38	chr3:48669774-48669824	NB4	blood:	n/a
39	chr3:48669774-48669824	H1-hESC	embryonic stem cell:	embryo
40	chr3:48671337-48671387	Hepatocyte	liver:	n/a
41	chr3:48672975-48673025	BJ	skin:	n/a
42	chr3:48672629-48672679	MCF-7	breast:	n/a
43	chr3:48672629-48672679	GM19239	blood:	n/a
44	chr3:48673083-48673133	BE2_C	brain:	n/a
45	chr3:48673087-48673137	NHBE	bronchial:	n/a
46	chr3:48671337-48671387	ProgFib	skin:	n/a
47	chr3:48673083-48673133	Caco-2	colon:	n/a
48	chr3:48672975-48673025	AG09319	gingival:	n/a
49	chr3:48672985-48673035	T-47D	breast:	n/a
50	chr3:48672407-48672457	ovcar-3	ovarian:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48670997..48674874-chr3:48698947..48702118,7	MCF-7	breast:
2	chr3:48594423..48596370-chr3:48671883..48674168,2	K562	blood:
3	chr3:48594247..48597141-chr3:48671392..48674077,2	MCF-7	breast:
4	chr3:48514107..48516088-chr3:48667675..48669788,2	K562	blood:
5	chr17:8076447..8077190-chr3:48672013..48672607,2	HCT-116	colon:
6	chr3:48670764..48674544-chr3:48699167..48702803,6	K562	blood:
7	chr3:48667529..48675453-chr3:48697968..48703139,10	MCF-7	breast:
8	chr3:48620158..48621979-chr3:48670195..48672558,2	K562	blood:
9	chr3:48541156..48543765-chr3:48670075..48672910,2	K562	blood:
10	chr3:48670890..48672785-chr3:48672866..48675614,2	MCF-7	breast:
11	chr3:48665788..48669314-chr3:48669500..48672901,6	K562	blood:
12	chr3:48673016..48675610-chr3:48677964..48680393,2	K562	blood:
13	chr3:48669740..48673837-chr3:48676132..48680334,3	MCF-7	breast:
14	chr3:48631986..48633856-chr3:48672080..48674450,2	K562	blood:
15	chr3:48647115..48647678-chr3:48672559..48673379,2	MCF-7	breast:
16	chr3:48608865..48611269-chr3:48670330..48672389,2	K562	blood:
17	chr3:48672989..48673806-chr3:48723405..48723940,2	K562	blood:
18	chr17:73775608..73776222-chr3:48671105..48671727,2	HCT-116	colon:
19	chr3:48634583..48638851-chr3:48666607..48670894,4	MCF-7	breast:
20	chr3:48592797..48594664-chr3:48671142..48674033,2	MCF-7	breast:
21	chr3:48670890..48672785-chr3:48672866..48675614,2	MCF-7	breast:
22	chr17:2206809..2207404-chr3:48672320..48672914,2	Hela-S3	cervix:
23	chr3:48665788..48669314-chr3:48669500..48672901,6	K562	blood:
24	chr3:48672340..48673295-chr7:26239951..26240659,2	Hela-S3	cervix:
25	chr3:48670869..48673258-chr3:48680752..48682540,2	K562	blood:
26	chr3:48670764..48674544-chr3:48698929..48702803,9	K562	blood:
27	chr3:48671382..48674659-chr3:48676453..48680538,5	MCF-7	breast:
28	chr3:48671184..48673366-chr3:48722826..48724747,2	K562	blood:
29	chr3:48645687..48647354-chr3:48671015..48673103,2	MCF-7	breast:
30	chr3:48593498..48596370-chr3:48671883..48674161,2	K562	blood:
31	chr3:48641673..48644998-chr3:48670911..48673807,4	K562	blood:
32	chr3:48644319..48649140-chr3:48667292..48673836,7	K562	blood:
33	chr3:48631939..48633856-chr3:48671693..48673580,2	K562	blood:
34	chr3:48669152..48670983-chr3:48700604..48702658,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6824-3p	chr3:48671069-48671089	MIMAT0027549
hsa-miR-6824-5p	chr3:48671105-48671126	MIMAT0027548

No data

Variant related genes	Relation type
SLC26A6	TF binding region
SLC26A6	CpG island
ENSG00000213672	chromatin interactions
ENSG00000008300	chromatin interactions
ENSG00000225697	chromatin interactions
ENSG00000010256	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000164054	chromatin interactions
ENSG00000114268	chromatin interactions
ENSG00000228350	chromatin interactions
ENSG00000263898	chromatin interactions
ENSG00000114270	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000070366	chromatin interactions
ENSG00000167720	chromatin interactions

Extended variants
information (count: 232 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369726823	chr3:48668055-48668056	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs538490061	chr3:48668083-48668084	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs377008190	chr3:48668084-48668085	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs369278809	chr3:48668097-48668098	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs571193059	chr3:48668158-48668159	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs373501275	chr3:48668163-48668164	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs538269766	chr3:48668168-48668169	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs114135552	chr3:48668170-48668171	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs369277643	chr3:48668182-48668183	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs377394387	chr3:48668229-48668230	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs572196324	chr3:48668269-48668270	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs71324909	chr3:48668287-48668288	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs181451367	chr3:48668310-48668311	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs576163147	chr3:48668336-48668337	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs543675487	chr3:48668360-48668361	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs565049634	chr3:48668365-48668366	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs201518712	chr3:48668369-48668370	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs112463382	chr3:48668379-48668380	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs577956551	chr3:48668385-48668386	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs3821876	chr3:48668394-48668395	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs201165435	chr3:48668397-48668398	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs527821825	chr3:48668404-48668405	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs377541274	chr3:48668410-48668411	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs375933990	chr3:48668413-48668414	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs200771775	chr3:48668443-48668444	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs549074921	chr3:48668461-48668462	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs371048432	chr3:48668516-48668517	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs369772881	chr3:48668527-48668528	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs376155566	chr3:48668528-48668529	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs561484777	chr3:48668533-48668534	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs370477728	chr3:48668550-48668551	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs374113446	chr3:48668573-48668574	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs143217777	chr3:48668591-48668592	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs201245100	chr3:48668608-48668609	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs200312547	chr3:48668619-48668620	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs199885045	chr3:48668685-48668686	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs571879076	chr3:48668707-48668708	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs538604678	chr3:48668719-48668720	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs373655418	chr3:48668733-48668734	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs547459930	chr3:48668766-48668767	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs117314523	chr3:48668809-48668810	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs117708068	chr3:48668892-48668893	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs147499355	chr3:48668949-48668950	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs185544819	chr3:48668959-48668960	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs536883771	chr3:48669017-48669018	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs369217037	chr3:48669020-48669021	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs368886390	chr3:48669053-48669054	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs372649412	chr3:48669070-48669071	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs544992177	chr3:48669074-48669075	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs560074702	chr3:48669079-48669080	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48649000-48672000	Weak transcription	Fetal Brain Male	brain
2	chr3:48656400-48671400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:48657800-48670000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:48659000-48671200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:48660000-48671200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:48660800-48668600	Weak transcription	Fetal Lung	lung
7	chr3:48661000-48671200	Strong transcription	Aorta	Aorta
8	chr3:48661000-48671600	Weak transcription	Psoas Muscle	Psoas
9	chr3:48661200-48670200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:48661200-48670800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:48661200-48671000	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr3:48661200-48671800	Weak transcription	Small Intestine	intestine
13	chr3:48661600-48670600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:48661600-48670800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:48661600-48670800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:48661600-48670800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:48661600-48670800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr3:48661600-48670800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:48661600-48671200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:48661600-48671400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:48661800-48670200	Strong transcription	Spleen	Spleen
22	chr3:48661800-48670800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:48661800-48671000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:48661800-48671400	Strong transcription	NHEK	skin
25	chr3:48661800-48671600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:48662000-48669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:48662000-48671000	Strong transcription	Brain Hippocampus Middle	brain
28	chr3:48662000-48671000	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:48662000-48671200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr3:48662000-48671200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:48662000-48671400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:48662000-48671400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr3:48662000-48671800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr3:48662200-48670200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr3:48662200-48670600	Strong transcription	Osteobl	bone
36	chr3:48662200-48670800	Strong transcription	Thymus	Thymus
37	chr3:48662200-48671000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:48662200-48671200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:48662200-48671200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:48662200-48671400	Strong transcription	Fetal Intestine Small	intestine
41	chr3:48662200-48671400	Strong transcription	Fetal Stomach	stomach
42	chr3:48662200-48671800	Weak transcription	Primary B cells from cord blood	blood
43	chr3:48662200-48671800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr3:48662400-48668600	Strong transcription	Fetal Muscle Leg	muscle
45	chr3:48662400-48668600	Strong transcription	Gastric	stomach
46	chr3:48662400-48669000	Strong transcription	Brain Cingulate Gyrus	brain
47	chr3:48662400-48670600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:48662400-48670800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:48662400-48671200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:48662400-48671200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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