Variant report

Variant	esv3405166
Chromosome Location	chr3:120168887-120171435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:120170103-120170613	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr3:120168314-120169030	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr3:120168683-120169237	MCF-7	breast:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964
4	CEBPB	chr3:120167754-120169376	A549	lung:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120167876-120167889
5	CEBPB	chr3:120167561-120169157	IMR90	lung:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120167876-120167889
6	CEBPB	chr3:120169724-120169788	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr3:120168586-120169215	HCT-116	colon:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964
8	CEBPB	chr3:120168838-120169056	HepG2	liver:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964
9	CEBPB	chr3:120168778-120169149	HepG2	liver:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964
10	CEBPB	chr3:120168023-120169454	A549	lung:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964
11	CEBPB	chr3:120168730-120169224	MCF-7	breast:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964
12	CEBPB	chr3:120168789-120169126	K562	blood:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964
13	CEBPB	chr3:120168701-120169210	A549	lung:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964
14	CEBPB	chr3:120168767-120169369	H1-hESC	embryonic stem cell:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964
15	CEBPB	chr3:120167633-120169558	Hela-S3	cervix:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120167876-120167889
16	CEBPB	chr3:120168656-120169231	ECC-1	luminal epithelium:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964
17	CEBPB	chr3:120168718-120169178	ECC-1	luminal epithelium:	n/a	chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964 chr3:120168955-120168964
18	CHD1	chr3:120166596-120170724	IMR90	lung:	n/a	chr3:120170701-120170708 chr3:120169213-120169220
19	CHD1	chr3:120167757-120169842	H1-hESC	embryonic stem cell:	n/a	chr3:120169213-120169220
20	CHD1	chr3:120170266-120170323	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr3:120168486-120169453	Hela-S3	cervix:	n/a	chr3:120169213-120169220
22	CHD2	chr3:120169588-120170676	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTBP2	chr3:120169299-120170767	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr3:120169860-120170010	AG04449	skin:	n/a	n/a
25	CTCF	chr3:120169300-120169450	NHEK	skin:	n/a	n/a
26	E2F4	chr3:120168561-120169192	MCF10A-Er-Src	breast:	n/a	chr3:120169132-120169141
27	EGR1	chr3:120170251-120170693	H1-hESC	embryonic stem cell:	n/a	chr3:120170538-120170549 chr3:120170536-120170551 chr3:120170536-120170550 chr3:120170537-120170550 chr3:120170357-120170367 chr3:120170532-120170554 chr3:120170537-120170550 chr3:120170537-120170550 chr3:120170538-120170548
28	EGR1	chr3:120170332-120170762	H1-hESC	embryonic stem cell:	n/a	chr3:120170538-120170549 chr3:120170536-120170551 chr3:120170536-120170550 chr3:120170537-120170550 chr3:120170357-120170367 chr3:120170532-120170554 chr3:120170537-120170550 chr3:120170537-120170550 chr3:120170538-120170548
29	EP300	chr3:120169433-120170537	ECC-1	luminal epithelium:	n/a	chr3:120170155-120170171 chr3:120169999-120170008 chr3:120169971-120169987 chr3:120170156-120170172 chr3:120170168-120170184
30	EP300	chr3:120168313-120170325	SK-N-SH	brain:	n/a	chr3:120170155-120170171 chr3:120169999-120170008 chr3:120168364-120168372 chr3:120168652-120168666 chr3:120169971-120169987 chr3:120170156-120170172 chr3:120170168-120170184
31	EP300	chr3:120168173-120169134	Hela-S3	cervix:	n/a	chr3:120168364-120168372 chr3:120168652-120168666
32	FOS	chr3:120168158-120168916	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr3:120168809-120168917	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr3:120168936-120168957	MCF10A-Er-Src	breast:	n/a	n/a
35	FOXP2	chr3:120169721-120169977	SK-N-MC	brain:	n/a	n/a
36	GTF2F1	chr3:120168699-120169338	Hela-S3	cervix:	n/a	n/a
37	GTF2F1	chr3:120169667-120169958	H1-hESC	embryonic stem cell:	n/a	n/a
38	GTF2F1	chr3:120170418-120170698	H1-hESC	embryonic stem cell:	n/a	n/a
39	GTF3C2	chr3:120168254-120169163	Hela-S3	cervix:	n/a	n/a
40	HDAC2	chr3:120170487-120170667	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUN	chr3:120168839-120168978	HepG2	liver:	n/a	n/a
42	JUND	chr3:120170127-120170306	H1-hESC	embryonic stem cell:	n/a	chr3:120170265-120170274
43	JUND	chr3:120169402-120170172	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr3:120169641-120169881	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr3:120170344-120170550	H1-hESC	embryonic stem cell:	n/a	n/a
46	KAP1	chr3:120170239-120170907	U2OS	brain:	n/a	n/a
47	KAP1	chr3:120168484-120169095	HEK293	kidney:	n/a	n/a
48	KAP1	chr3:120168558-120169152	U2OS	brain:	n/a	n/a
49	MAX	chr3:120168440-120169291	Hela-S3	cervix:	n/a	n/a
50	MAX	chr3:120168843-120169775	A549	lung:	n/a	chr3:120169693-120169703

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:120170383-120170433	U87	brain:	n/a
2	chr3:120169783-120169833	HCF	heart:	n/a
3	chr3:120170474-120170524	HIPEpiC	eye:	n/a
4	chr3:120170474-120170524	ProgFib	skin:	n/a
5	chr3:120169783-120169833	HEEpiC	esophagus:	n/a
6	chr3:120170441-120170491	SAEC	small airway:	n/a
7	chr3:120169821-120169871	Hepatocyte	liver:	n/a
8	chr3:120170646-120170696	AG10803	skin:	n/a
9	chr3:120170474-120170524	SK-N-SH_RA	brain:	n/a
10	chr3:120170383-120170433	NT2-D1	testis:	n/a
11	chr3:120169368-120169418	HNPCEpiC	eye:	n/a
12	chr3:120169783-120169833	HRPEpiC	eye:	n/a
13	chr3:120170441-120170491	HCF	heart:	n/a
14	chr3:120169821-120169871	AG04450	lung:	fetal
15	chr3:120169368-120169418	AG04450	lung:	fetal
16	chr3:120169783-120169833	U87	brain:	n/a
17	chr3:120170646-120170696	HCF	heart:	n/a
18	chr3:120169783-120169833	AG09309	skin:	n/a
19	chr3:120170441-120170491	HEEpiC	esophagus:	n/a
20	chr3:120170383-120170433	AG04450	lung:	fetal
21	chr3:120169783-120169833	BJ	skin:	n/a
22	chr3:120169368-120169418	GM06990	blood:	n/a
23	chr3:120169783-120169833	NB4	blood:	n/a
24	chr3:120170383-120170433	NHBE	bronchial:	n/a
25	chr3:120169368-120169418	U87	brain:	n/a
26	chr3:120170474-120170524	AG09309	skin:	n/a
27	chr3:120169783-120169833	H1-hESC	embryonic stem cell:	embryo
28	chr3:120170441-120170491	NB4	blood:	n/a
29	chr3:120169821-120169871	NHDF-neo	bronchial:	n/a
30	chr3:120170474-120170524	LNCaP	prostate:	n/a
31	chr3:120170441-120170491	GM12891	blood:	n/a
32	chr3:120169783-120169833	SK-N-SH_RA	brain:	n/a
33	chr3:120170474-120170524	AG09319	gingival:	n/a
34	chr3:120170474-120170524	Hepatocyte	liver:	n/a
35	chr3:120169821-120169871	RPTEC	kidney:	n/a
36	chr3:120169821-120169871	Hela-S3	cervix:	n/a
37	chr3:120170474-120170524	T-47D	breast:	n/a
38	chr3:120169783-120169833	MCF10A-Er-Src	breast:	n/a
39	chr3:120170474-120170524	NB4	blood:	n/a
40	chr3:120170441-120170491	ProgFib	skin:	n/a
41	chr3:120169821-120169871	BJ	skin:	n/a
42	chr3:120170474-120170524	ovcar-3	ovarian:	n/a
43	chr3:120170441-120170491	HUVEC	blood vessel:	n/a
44	chr3:120170646-120170696	NB4	blood:	n/a
45	chr3:120169821-120169871	U87	brain:	n/a
46	chr3:120170383-120170433	HPAEpiC	pulmonary alveolar:	n/a
47	chr3:120170474-120170524	HNPCEpiC	eye:	n/a
48	chr3:120170441-120170491	BE2_C	brain:	n/a
49	chr3:120169368-120169418	NHDF-neo	bronchial:	n/a
50	chr3:120170383-120170433	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:120066850..120068404-chr3:120168002..120169712,2	K562	blood:
2	chr3:120135893..120137729-chr3:120167558..120169629,2	MCF-7	breast:
3	chr3:120166952..120169851-chr3:120171116..120172868,2	MCF-7	breast:

Variant related genes	Relation type
FSTL1	TF binding region
FSTL1	CpG island
ENSG00000163430	chromatin interactions
ENSG00000240661	chromatin interactions
ENSG00000163428	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139399236	chr3:120168916-120168917	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565207704	chr3:120168954-120168955	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544949672	chr3:120168959-120168960	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs377466681	chr3:120168961-120168962	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565295219	chr3:120169007-120169008	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs1147706	chr3:120169009-120169010	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561085509	chr3:120169022-120169023	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530213440	chr3:120169035-120169036	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs188550033	chr3:120169051-120169052	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560750894	chr3:120169084-120169085	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs532599884	chr3:120169151-120169152	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs552327331	chr3:120169200-120169201	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs1147707	chr3:120169248-120169249	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376151428	chr3:120169254-120169255	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113412019	chr3:120169255-120169256	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550556274	chr3:120169257-120169258	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs567124303	chr3:120169309-120169310	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536363897	chr3:120169317-120169318	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532144693	chr3:120169362-120169363	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373192525	chr3:120169363-120169364	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113217607	chr3:120169370-120169371	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs72960807	chr3:120169383-120169384	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs373879045	chr3:120169424-120169425	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538883538	chr3:120169450-120169451	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377258162	chr3:120169471-120169472	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs575618549	chr3:120169546-120169547	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs370642677	chr3:120169548-120169549	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200124990	chr3:120169575-120169576	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs200850613	chr3:120169598-120169599	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544130242	chr3:120169632-120169633	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200817806	chr3:120169633-120169634	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs1147708	chr3:120169641-120169642	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574705914	chr3:120169668-120169669	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527655416	chr3:120169673-120169674	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370781958	chr3:120169697-120169698	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560239244	chr3:120169720-120169721	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs532464039	chr3:120169734-120169735	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs371623535	chr3:120169893-120169894	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs552365939	chr3:120169923-120169924	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs562699261	chr3:120169930-120169931	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs185926029	chr3:120169942-120169943	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs548567379	chr3:120170009-120170010	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs568722568	chr3:120170037-120170038	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs535898019	chr3:120170039-120170040	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs546573586	chr3:120170076-120170077	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs566612906	chr3:120170081-120170082	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs538695826	chr3:120170089-120170090	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs558787719	chr3:120170197-120170198	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs191184746	chr3:120170218-120170219	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs538156859	chr3:120170273-120170274	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120138200-120169200	Weak transcription	Gastric	stomach
2	chr3:120163000-120169000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:120166600-120170200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr3:120166800-120169000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:120167400-120169200	Active TSS	Colonic Mucosa	Colon
6	chr3:120167400-120170400	Active TSS	Psoas Muscle	Psoas
7	chr3:120167600-120170400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
8	chr3:120167800-120169000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr3:120167800-120169000	Flanking Active TSS	NHEK	skin
10	chr3:120167800-120170200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:120168000-120169200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:120168000-120169200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr3:120168000-120170200	Active TSS	Fetal Muscle Trunk	muscle
14	chr3:120168000-120170400	Active TSS	Brain Hippocampus Middle	brain
15	chr3:120168000-120170400	Active TSS	Left Ventricle	heart
16	chr3:120168000-120170400	Active TSS	NHDF-Ad	bronchial
17	chr3:120168000-120170600	Active TSS	Brain Anterior Caudate	brain
18	chr3:120168000-120170600	Active TSS	Right Atrium	heart
19	chr3:120168200-120169200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:120168200-120169200	Flanking Active TSS	Fetal Brain Male	brain
21	chr3:120168200-120170200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:120168200-120170200	Active TSS	Muscle Satellite Cultured Cells	--
23	chr3:120168200-120170200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:120168200-120170200	Active TSS	Right Ventricle	heart
25	chr3:120168200-120170400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:120168200-120170400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:120168200-120170400	Active TSS	Aorta	Aorta
28	chr3:120168200-120170400	Active TSS	NHLF	lung
29	chr3:120168200-120170600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr3:120168200-120170600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:120168200-120170600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:120168200-120170600	Active TSS	Colon Smooth Muscle	Colon
33	chr3:120168200-120170600	Active TSS	Placenta Amnion	Placenta Amnion
34	chr3:120168200-120170600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr3:120168400-120169000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr3:120168400-120169400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:120168400-120169400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
38	chr3:120168400-120169600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr3:120168400-120169600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:120168400-120170000	Active TSS	Stomach Smooth Muscle	stomach
41	chr3:120168400-120170200	Active TSS	Adipose Nuclei	Adipose
42	chr3:120168400-120170200	Active TSS	Placenta	Placenta
43	chr3:120168400-120170200	Active TSS	Osteobl	bone
44	chr3:120168400-120170400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr3:120168400-120170400	Active TSS	Brain Angular Gyrus	brain
46	chr3:120168400-120170400	Active TSS	Fetal Stomach	stomach
47	chr3:120168400-120170400	Active TSS	Ovary	ovary
48	chr3:120168400-120170400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
49	chr3:120168400-120170400	Active TSS	A549	lung
50	chr3:120168400-120170400	Active TSS	HUVEC	blood vessel

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