Variant report

Variant	esv3375203
Chromosome Location	chr3:150479287-150481835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:988)
CpG islands
(count:854)
Chromatin interactive
region (count:46)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:988 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:150481399-150481536	K562	blood:	n/a	n/a
2	ARID3A	chr3:150480940-150481121	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:150479387-150479661	K562	blood:	n/a	n/a
4	ARID3A	chr3:150481554-150482096	HepG2	liver:	n/a	n/a
5	ATF2	chr3:150481190-150481591	GM12878	blood:	n/a	n/a
6	ATF2	chr3:150480894-150482108	GM12878	blood:	n/a	chr3:150480943-150480957
7	ATF3	chr3:150480753-150481109	K562	blood:	n/a	n/a
8	ATF3	chr3:150480746-150481127	HepG2	liver:	n/a	n/a
9	ATF3	chr3:150481197-150481578	K562	blood:	n/a	n/a
10	ATF3	chr3:150480818-150481224	K562	blood:	n/a	n/a
11	ATF3	chr3:150480649-150481492	A549	lung:	n/a	n/a
12	ATF3	chr3:150481283-150481730	A549	lung:	n/a	n/a
13	BACH1	chr3:150480818-150481889	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr3:150481410-150481815	K562	blood:	n/a	n/a
15	BATF	chr3:150481307-150481568	GM12878	blood:	n/a	chr3:150481392-150481402 chr3:150481391-150481402
16	BCL3	chr3:150480727-150481555	GM12878	blood:	n/a	chr3:150480817-150480830
17	BCL3	chr3:150481254-150481809	A549	lung:	n/a	n/a
18	BCL3	chr3:150480798-150481274	GM12878	blood:	n/a	chr3:150480817-150480830
19	BCLAF1	chr3:150480807-150482057	GM12878	blood:	n/a	chr3:150480817-150480830
20	BCLAF1	chr3:150480702-150482136	GM12878	blood:	n/a	chr3:150480817-150480830
21	BHLHE40	chr3:150479641-150479998	K562	blood:	n/a	n/a
22	BHLHE40	chr3:150480218-150480367	K562	blood:	n/a	n/a
23	BHLHE40	chr3:150480766-150482035	HepG2	liver:	n/a	n/a
24	BHLHE40	chr3:150480726-150481935	GM12878	blood:	n/a	n/a
25	BHLHE40	chr3:150480786-150482009	K562	blood:	n/a	n/a
26	BRCA1	chr3:150480990-150480992	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr3:150481390-150481561	HepG2	liver:	n/a	n/a
28	BRCA1	chr3:150480898-150481140	HepG2	liver:	n/a	n/a
29	BRCA1	chr3:150479697-150479949	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr3:150480858-150482222	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr3:150480834-150482040	K562	blood:	n/a	n/a
32	CCNT2	chr3:150479790-150481952	K562	blood:	n/a	n/a
33	CEBPB	chr3:150481685-150481825	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr3:150480753-150482032	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr3:150480798-150481133	K562	blood:	n/a	n/a
36	CEBPB	chr3:150480777-150481885	IMR90	lung:	n/a	n/a
37	CEBPB	chr3:150481125-150481994	GM12878	blood:	n/a	n/a
38	CEBPB	chr3:150480779-150481303	HepG2	liver:	n/a	n/a
39	CEBPB	chr3:150480741-150481962	MCF-7	breast:	n/a	n/a
40	CEBPB	chr3:150480769-150481953	A549	lung:	n/a	n/a
41	CEBPB	chr3:150480839-150481111	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr3:150480268-150480363	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr3:150480239-150481904	HepG2	liver:	n/a	n/a
44	CEBPB	chr3:150480794-150481214	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr3:150480819-150481050	HepG2	liver:	n/a	n/a
46	CEBPB	chr3:150481692-150481897	K562	blood:	n/a	n/a
47	CEBPB	chr3:150480636-150481249	A549	lung:	n/a	n/a
48	CEBPB	chr3:150480787-150481115	HepG2	liver:	n/a	n/a
49	CEBPB	chr3:150480858-150481078	A549	lung:	n/a	n/a
50	CEBPD	chr3:150480751-150481643	HepG2	liver:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150479915-150479965	Hepatocyte	liver:	n/a
2	chr3:150481126-150481176	AG09319	gingival:	n/a
3	chr3:150481348-150481398	HCPEpiC	choroid plexus:	n/a
4	chr3:150480280-150480330	Caco-2	colon:	n/a
5	chr3:150479830-150479880	HNPCEpiC	eye:	n/a
6	chr3:150481783-150481833	HUVEC	blood vessel:	n/a
7	chr3:150479915-150479965	Jurkat	blood:	n/a
8	chr3:150481327-150481377	K562	blood:	n/a
9	chr3:150481511-150481561	ECC-1	luminal epithelium:	n/a
10	chr3:150481348-150481398	Jurkat	blood:	n/a
11	chr3:150481287-150481337	MCF10A-Er-Src	breast:	n/a
12	chr3:150481321-150481371	GM19239	blood:	n/a
13	chr3:150481327-150481377	HAEpiC	amniotic membrane:	n/a
14	chr3:150481321-150481371	LNCaP	prostate:	n/a
15	chr3:150481783-150481833	HCT-116	colon:	n/a
16	chr3:150480910-150480960	AG09319	gingival:	n/a
17	chr3:150481287-150481337	HNPCEpiC	eye:	n/a
18	chr3:150481327-150481377	U87	brain:	n/a
19	chr3:150481783-150481833	T-47D	breast:	n/a
20	chr3:150479915-150479965	ProgFib	skin:	n/a
21	chr3:150481321-150481371	BE2_C	brain:	n/a
22	chr3:150479760-150479810	AG04450	lung:	fetal
23	chr3:150479760-150479810	K562	blood:	n/a
24	chr3:150480910-150480960	T-47D	breast:	n/a
25	chr3:150480280-150480330	ovcar-3	ovarian:	n/a
26	chr3:150481348-150481398	HPAEpiC	pulmonary alveolar:	n/a
27	chr3:150479760-150479810	HCM	heart:	n/a
28	chr3:150481783-150481833	AG04449	skin:	fetal
29	chr3:150480280-150480330	HEK293	kidney:	embryo
30	chr3:150481126-150481176	HRE	kidney:	n/a
31	chr3:150480910-150480960	SK-N-SH_RA	brain:	n/a
32	chr3:150479915-150479965	HNPCEpiC	eye:	n/a
33	chr3:150480033-150480083	AG09309	skin:	n/a
34	chr3:150481321-150481371	K562	blood:	n/a
35	chr3:150481409-150481459	PrEC	prostate:	n/a
36	chr3:150480033-150480083	CMK	blood:	n/a
37	chr3:150479915-150479965	A549	lung:	n/a
38	chr3:150480910-150480960	CMK	blood:	n/a
39	chr3:150481287-150481337	AG10803	skin:	n/a
40	chr3:150480033-150480083	HepG2	liver:	n/a
41	chr3:150481348-150481398	SK-N-SH	brain:	n/a
42	chr3:150480033-150480083	GM06990	blood:	n/a
43	chr3:150480033-150480083	ProgFib	skin:	n/a
44	chr3:150480280-150480330	PANC-1	pancreas:	n/a
45	chr3:150481783-150481833	HCF	heart:	n/a
46	chr3:150481409-150481459	HCPEpiC	choroid plexus:	n/a
47	chr3:150479760-150479810	NHDF-neo	bronchial:	n/a
48	chr3:150481783-150481833	AG10803	skin:	n/a
49	chr3:150480033-150480083	MCF-7	breast:	n/a
50	chr3:150481126-150481176	CMK	blood:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:
2	chr12:107364565..107365547-chr3:150481458..150482307,2	Hela-S3	cervix:
3	chr12:112037035..112037635-chr3:150480512..150481076,2	Hela-S3	cervix:
4	chr3:150480179..150481920-chr5:81573122..81575962,2	MCF-7	breast:
5	chr3:150480434..150481052-chr7:45960362..45960974,2	Hela-S3	cervix:
6	chr1:165600104..165600758-chr3:150480533..150481145,2	Hela-S3	cervix:
7	chr3:150479690..150481282-chr6:76352345..76354574,2	MCF-7	breast:
8	chr3:150261800..150265866-chr3:150477764..150484308,7	MCF-7	breast:
9	chr20:62496000..62496902-chr3:150480890..150481564,2	Hela-S3	cervix:
10	chr20:55753885..55754468-chr3:150481272..150482133,2	MCF-7	breast:
11	chr3:150263797..150265530-chr3:150478854..150481327,3	MCF-7	breast:
12	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
13	chr14:105957367..105958177-chr3:150481138..150481891,2	Hela-S3	cervix:
14	chr3:150454771..150455427-chr3:150481400..150481906,2	MCF-7	breast:
15	chr3:150438835..150439759-chr3:150481383..150482353,4	MCF-7	breast:
16	chr22:37956970..37957729-chr3:150481295..150482246,2	Hela-S3	cervix:
17	chr1:153963076..153963645-chr3:150480602..150481470,2	Hela-S3	cervix:
18	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
19	chr3:150480540..150481237-chr6:26020610..26021240,2	Hela-S3	cervix:
20	chr20:30194436..30195217-chr3:150481124..150482095,2	Hela-S3	cervix:
21	chr3:150480176..150481089-chr5:40680039..40680660,2	Hela-S3	cervix:
22	chr3:150481291..150481796-chr3:150504221..150504737,2	MCF-7	breast:
23	chr1:161087567..161088346-chr3:150480467..150481143,2	Hela-S3	cervix:
24	chr16:691658..692362-chr3:150480554..150481520,2	Hela-S3	cervix:
25	chr3:150481125..150481655-chr9:127420519..127421247,2	HCT-116	colon:
26	chr11:65340013..65340621-chr3:150479913..150480913,2	Hela-S3	cervix:
27	chr3:150421205..150424923-chr3:150480120..150484463,5	MCF-7	breast:
28	chr3:150481412..150481942-chr3:150547893..150548575,2	MCF-7	breast:
29	chr1:17231305..17231818-chr3:150479779..150480451,2	Hela-S3	cervix:
30	chr1:1821467..1822293-chr3:150480860..150481460,2	Hela-S3	cervix:
31	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
32	chr17:79825898..79826714-chr3:150481279..150482274,2	Hela-S3	cervix:
33	chr1:179851119..179851848-chr3:150479575..150480206,2	Hela-S3	cervix:
34	chr3:101280431..101281099-chr3:150480190..150481106,2	Hela-S3	cervix:
35	chr3:150399970..150401503-chr3:150480432..150482241,2	K562	blood:
36	chr16:18812446..18813204-chr3:150480815..150481315,2	Hela-S3	cervix:
37	chr3:150328265..150331845-chr3:150479203..150481571,3	K562	blood:
38	chr1:147735548..147736307-chr3:150480950..150481574,2	HCT-116	colon:
39	chr16:70557100..70557644-chr3:150481159..150481806,2	Hela-S3	cervix:
40	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
41	chr3:150419019..150423394-chr3:150479448..150481415,4	MCF-7	breast:
42	chr12:123717282..123717840-chr3:150480496..150481372,2	Hela-S3	cervix:
43	chr3:150319550..150322084-chr3:150479715..150481431,2	K562	blood:
44	chr3:150481130..150481712-chr3:156892681..156893423,2	Hela-S3	cervix:
45	chr3:149094494..149095113-chr3:150480059..150480937,2	Hela-S3	cervix:
46	chr15:71588021..71588700-chr3:150480360..150481079,2	Hela-S3	cervix:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-392O18.1.1-2	chr3:150479724-150479962	ENSG00000244265.1
2	lnc-RP11-392O18.1.1-2	chr3:150480124-150480325	ENSG00000244265.1

No data

Variant related genes	Relation type
SIAH2	TF binding region
SIAH2-AS1	TF binding region
SIAH2	CpG island
SIAH2-AS1	CpG island
ENSG00000186468	chromatin interactions
ENSG00000163645	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000143198	chromatin interactions
ENSG00000244668	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000204842	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000151135	chromatin interactions
ENSG00000271711	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000174173	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000224020	chromatin interactions
ENSG00000172366	chromatin interactions
ENSG00000197727	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000143256	chromatin interactions
ENSG00000258099	chromatin interactions
ENSG00000205464	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000243176	chromatin interactions
ENSG00000101150	chromatin interactions
ENSG00000199879	chromatin interactions
ENSG00000198843	chromatin interactions
ENSG00000158793	chromatin interactions
ENSG00000252498	chromatin interactions
ENSG00000146674	chromatin interactions
ENSG00000240137	chromatin interactions
ENSG00000078369	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145612725	chr3:150479355-150479356	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs147722099	chr3:150479367-150479368	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs73010942	chr3:150479385-150479386	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs368025159	chr3:150479484-150479485	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs183036398	chr3:150479540-150479541	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs187661754	chr3:150479575-150479576	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs561449878	chr3:150479638-150479639	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs575063794	chr3:150479691-150479692	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs536056274	chr3:150479716-150479717	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs553914204	chr3:150479747-150479748	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
11	rs370613862	chr3:150479776-150479777	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
12	rs1838337	chr3:150479816-150479817	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532250574	chr3:150479916-150479917	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
14	rs552262474	chr3:150479950-150479951	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
15	rs368706128	chr3:150479975-150479976	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs562689470	chr3:150480029-150480030	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs539773437	chr3:150480035-150480036	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs558015513	chr3:150480055-150480056	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs1444197	chr3:150480057-150480058	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548345307	chr3:150480076-150480077	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs143524220	chr3:150480077-150480078	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs146383533	chr3:150480100-150480101	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs375878724	chr3:150480101-150480102	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs34072669	chr3:150480103-150480104	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs373502669	chr3:150480104-150480105	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs3836402	chr3:150480107-150480108	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs201765289	chr3:150480108-150480109	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs62282678	chr3:150480119-150480120	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs370468884	chr3:150480133-150480134	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
30	rs527578999	chr3:150480170-150480171	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
31	rs3773613	chr3:150480175-150480176	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566485772	chr3:150480201-150480202	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
33	rs538760618	chr3:150480397-150480398	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs145950840	chr3:150480400-150480401	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs184012990	chr3:150480406-150480407	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs539462897	chr3:150480448-150480449	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs569310827	chr3:150480449-150480450	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs538092446	chr3:150480456-150480457	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs1373419	chr3:150480489-150480490	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs575079833	chr3:150480490-150480491	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs540885589	chr3:150480501-150480502	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs553811757	chr3:150480545-150480546	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
43	rs576874780	chr3:150480554-150480555	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
44	rs545937861	chr3:150480682-150480683	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
45	rs562473948	chr3:150480690-150480691	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
46	rs531425393	chr3:150480779-150480780	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
47	rs541703618	chr3:150480877-150480878	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
48	rs561874482	chr3:150480905-150480906	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
49	rs146121542	chr3:150480912-150480913	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
50	rs527600235	chr3:150480960-150480961	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150471200-150479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:150471600-150479600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:150475000-150479800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr3:150475400-150480400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:150477000-150479400	Flanking Active TSS	Liver	Liver
6	chr3:150477000-150479400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr3:150477200-150479800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr3:150477200-150480400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr3:150477400-150480000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:150477600-150479600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:150477600-150479600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr3:150477600-150479800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr3:150477600-150480200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:150477600-150480400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr3:150477800-150479400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr3:150477800-150479400	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr3:150477800-150479400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr3:150477800-150479400	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr3:150477800-150479400	Flanking Active TSS	HUVEC	blood vessel
20	chr3:150477800-150479400	Flanking Active TSS	Osteobl	bone
21	chr3:150477800-150479600	Weak transcription	Gastric	stomach
22	chr3:150477800-150479800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr3:150477800-150479800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr3:150477800-150480000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr3:150478000-150479400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:150478000-150479400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:150478000-150479400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr3:150478000-150479400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr3:150478000-150479600	Weak transcription	Spleen	Spleen
30	chr3:150478000-150479800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr3:150478000-150479800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr3:150478000-150480000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr3:150478000-150482000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:150478000-150482200	Active TSS	Thymus	Thymus
35	chr3:150478200-150479400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:150478200-150479400	Flanking Active TSS	Fetal Brain Female	brain
37	chr3:150478200-150479600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:150478200-150479600	Flanking Active TSS	Fetal Brain Male	brain
39	chr3:150478200-150479600	Weak transcription	Lung	lung
40	chr3:150478200-150479800	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr3:150478200-150480400	Bivalent/Poised TSS	HepG2	liver
42	chr3:150478200-150480800	Active TSS	Right Atrium	heart
43	chr3:150478200-150481400	Active TSS	Primary T cells fromperipheralblood	blood
44	chr3:150478200-150481600	Active TSS	Colonic Mucosa	Colon
45	chr3:150478200-150482000	Active TSS	Ovary	ovary
46	chr3:150478200-150482200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:150478200-150482200	Active TSS	Right Ventricle	heart
48	chr3:150478200-150482200	Active TSS	NHDF-Ad	bronchial
49	chr3:150478200-150482400	Active TSS	Placenta	Placenta
50	chr3:150478200-150482400	Active TSS	GM12878-XiMat	blood

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