Variant report

Variant	nsv236293
Chromosome Location	chr3:120066250-120069861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:784)
CpG islands
(count:673)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:784 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:120068451-120068619	K562	blood:	n/a	n/a
2	ARID3A	chr3:120067808-120069545	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:120069759-120069842	K562	blood:	n/a	n/a
4	ATF2	chr3:120067926-120068711	GM12878	blood:	n/a	n/a
5	ATF3	chr3:120068364-120068579	K562	blood:	n/a	n/a
6	ATF3	chr3:120068081-120068356	K562	blood:	n/a	chr3:120068263-120068272 chr3:120068276-120068285
7	ATF3	chr3:120067997-120068538	A549	lung:	n/a	chr3:120068263-120068272 chr3:120068276-120068285
8	ATF3	chr3:120068003-120068818	GM12878	blood:	n/a	chr3:120068263-120068272 chr3:120068276-120068285
9	BACH1	chr3:120067855-120068693	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr3:120068116-120068119	K562	blood:	n/a	n/a
11	BACH1	chr3:120069214-120069576	K562	blood:	n/a	chr3:120069396-120069410
12	BACH1	chr3:120069203-120069565	H1-hESC	embryonic stem cell:	n/a	chr3:120069396-120069410
13	BCL3	chr3:120067978-120068489	A549	lung:	n/a	chr3:120068268-120068281
14	BCL3	chr3:120067730-120068435	GM12878	blood:	n/a	chr3:120068268-120068281
15	BCL3	chr3:120067791-120068765	A549	lung:	n/a	chr3:120068268-120068281
16	BCLAF1	chr3:120067544-120068491	GM12878	blood:	n/a	chr3:120068268-120068281
17	BCLAF1	chr3:120067800-120068613	GM12878	blood:	n/a	chr3:120068268-120068281
18	BHLHE40	chr3:120066893-120067229	HepG2	liver:	n/a	n/a
19	BHLHE40	chr3:120068061-120068399	HepG2	liver:	n/a	n/a
20	BHLHE40	chr3:120068090-120068626	HepG2	liver:	n/a	n/a
21	BHLHE40	chr3:120069333-120069663	K562	blood:	n/a	n/a
22	BHLHE40	chr3:120067601-120068693	HepG2	liver:	n/a	n/a
23	BHLHE40	chr3:120067044-120068980	GM12878	blood:	n/a	n/a
24	BHLHE40	chr3:120067872-120068726	A549	lung:	n/a	n/a
25	BHLHE40	chr3:120066919-120069062	K562	blood:	n/a	n/a
26	BRCA1	chr3:120068117-120068389	HepG2	liver:	n/a	n/a
27	BRCA1	chr3:120067817-120067857	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr3:120068109-120069807	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr3:120068130-120068255	GM12878	blood:	n/a	n/a
30	CBX3	chr3:120068027-120068682	K562	blood:	n/a	n/a
31	CBX3	chr3:120067495-120068635	HCT-116	colon:	n/a	n/a
32	CCNT2	chr3:120067407-120068600	K562	blood:	n/a	n/a
33	CEBPB	chr3:120067870-120068476	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr3:120069258-120069899	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr3:120067468-120068949	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr3:120069312-120069864	K562	blood:	n/a	n/a
37	CEBPD	chr3:120067948-120068552	HepG2	liver:	n/a	n/a
38	CHD1	chr3:120067290-120067396	GM12878	blood:	n/a	n/a
39	CHD1	chr3:120068596-120068892	GM12878	blood:	n/a	n/a
40	CHD1	chr3:120067830-120068324	GM12878	blood:	n/a	chr3:120068298-120068308 chr3:120068303-120068313
41	CHD1	chr3:120067576-120067610	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr3:120067370-120068839	Hela-S3	cervix:	n/a	chr3:120068298-120068308 chr3:120068303-120068313
43	CHD2	chr3:120067746-120068589	K562	blood:	n/a	chr3:120068298-120068308 chr3:120068303-120068313
44	CHD2	chr3:120067675-120068633	H1-hESC	embryonic stem cell:	n/a	chr3:120068298-120068308 chr3:120068303-120068313
45	CHD2	chr3:120067605-120068492	HepG2	liver:	n/a	chr3:120068298-120068308 chr3:120068303-120068313
46	CHD2	chr3:120066801-120068698	GM12878	blood:	n/a	chr3:120068298-120068308 chr3:120068303-120068313
47	CREB1	chr3:120068023-120068474	ECC-1	luminal epithelium:	n/a	n/a
48	CREB1	chr3:120067420-120068797	HepG2	liver:	n/a	n/a
49	CREB1	chr3:120068026-120068354	A549	lung:	n/a	n/a
50	CREB1	chr3:120067560-120068739	GM12878	blood:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:120068323-120068373	BJ	skin:	n/a
2	chr3:120068861-120068911	HRCEpiC	kidney:	n/a
3	chr3:120068323-120068373	BJ	skin:	n/a
4	chr3:120068861-120068911	HRCEpiC	kidney:	n/a
5	chr3:120068673-120068723	MCF-7	breast:	n/a
6	chr3:120068787-120068837	HCPEpiC	choroid plexus:	n/a
7	chr3:120068861-120068911	NB4	blood:	n/a
8	chr3:120068385-120068435	Hepatocyte	liver:	n/a
9	chr3:120068673-120068723	ProgFib	skin:	n/a
10	chr3:120068530-120068580	HCT-116	colon:	n/a
11	chr3:120068640-120068690	HAEpiC	amniotic membrane:	n/a
12	chr3:120068385-120068435	BJ	skin:	n/a
13	chr3:120068323-120068373	U87	brain:	n/a
14	chr3:120068323-120068373	HCT-116	colon:	n/a
15	chr3:120068225-120068275	HCM	heart:	n/a
16	chr3:120068640-120068690	K562	blood:	n/a
17	chr3:120068337-120068387	RPTEC	kidney:	n/a
18	chr3:120068323-120068373	NB4	blood:	n/a
19	chr3:120068787-120068837	HCT-116	colon:	n/a
20	chr3:120068700-120068750	HCPEpiC	choroid plexus:	n/a
21	chr3:120068673-120068723	PrEC	prostate:	n/a
22	chr3:120068640-120068690	ProgFib	skin:	n/a
23	chr3:120068323-120068373	SKMC	muscle:	n/a
24	chr3:120067732-120067782	SK-N-MC	brain:	n/a
25	chr3:120068640-120068690	HEK293	kidney:	embryo
26	chr3:120068385-120068435	HAEpiC	amniotic membrane:	n/a
27	chr3:120068225-120068275	GM12891	blood:	n/a
28	chr3:120068225-120068275	HAEpiC	amniotic membrane:	n/a
29	chr3:120068673-120068723	HEEpiC	esophagus:	n/a
30	chr3:120068530-120068580	AG10803	skin:	n/a
31	chr3:120068640-120068690	NB4	blood:	n/a
32	chr3:120068640-120068690	HCM	heart:	n/a
33	chr3:120068787-120068837	Hepatocyte	liver:	n/a
34	chr3:120068861-120068911	IMR90	lung:	fetal
35	chr3:120068530-120068580	ProgFib	skin:	n/a
36	chr3:120068700-120068750	PrEC	prostate:	n/a
37	chr3:120067732-120067782	Caco-2	colon:	n/a
38	chr3:120068385-120068435	HCF	heart:	n/a
39	chr3:120068323-120068373	H1-hESC	embryonic stem cell:	embryo
40	chr3:120068225-120068275	SK-N-MC	brain:	n/a
41	chr3:120068337-120068387	MCF-7	breast:	n/a
42	chr3:120067732-120067782	U87	brain:	n/a
43	chr3:120068385-120068435	HRPEpiC	eye:	n/a
44	chr3:120068673-120068723	HRPEpiC	eye:	n/a
45	chr3:120068385-120068435	ovcar-3	ovarian:	n/a
46	chr3:120068385-120068435	NB4	blood:	n/a
47	chr3:120068337-120068387	HMEC	breast:	n/a
48	chr3:120067732-120067782	HL-60	blood:	n/a
49	chr3:120068673-120068723	HPAEpiC	pulmonary alveolar:	n/a
50	chr3:120068700-120068750	ProgFib	skin:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119813314..119815193-chr3:120066557..120069483,2	MCF-7	breast:
2	chr3:119961553..119963645-chr3:120067756..120069896,2	MCF-7	breast:
3	chr3:120066931..120069030-chr3:120314504..120317461,2	MCF-7	breast:
4	chr3:120067385..120069387-chr3:120120673..120122492,2	MCF-7	breast:
5	chr3:120068153..120068948-chr6:26031801..26032711,2	Hela-S3	cervix:
6	chr3:119814026..119816300-chr3:120067212..120070079,2	MCF-7	breast:
7	chr11:65382893..65383727-chr3:120067505..120068255,2	Hela-S3	cervix:
8	chr19:47615199..47615964-chr3:120067825..120068376,2	NB4	blood:
9	chr3:120025111..120027109-chr3:120067982..120069603,2	MCF-7	breast:
10	chr10:104503487..104504043-chr3:120067799..120068315,2	Hela-S3	cervix:
11	chr3:120066467..120068992-chr3:120105411..120108399,2	MCF-7	breast:
12	chr3:119810967..119815661-chr3:120066752..120069801,5	K562	blood:
13	chr3:120066130..120068617-chr3:120117930..120119437,2	K562	blood:
14	chr3:120002820..120005702-chr3:120066388..120068289,2	MCF-7	breast:
15	chr3:113464641..113465236-chr3:120067876..120068653,2	NB4	blood:
16	chr3:119962878..119965844-chr3:120065668..120069448,4	MCF-7	breast:
17	chr2:233414846..233415548-chr3:120067893..120068661,3	HCT-116	colon:
18	chr3:120069111..120071997-chr3:120084566..120086906,2	K562	blood:
19	chr3:120055756..120058586-chr3:120065980..120068170,2	K562	blood:
20	chr3:119811895..119815177-chr3:120067061..120069801,4	K562	blood:
21	chr3:120066981..120069399-chr3:120202784..120204698,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240661	TF binding region
LRRC58	TF binding region
ENSG00000240661	CpG island
LRRC58	CpG island
ENSG00000240882	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000242622	chromatin interactions
ENSG00000175697	chromatin interactions
ENSG00000121579	chromatin interactions
ENSG00000082701	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000240774	chromatin interactions
ENSG00000242613	chromatin interactions
ENSG00000166272	chromatin interactions
ENSG00000065518	chromatin interactions
ENSG00000130749	chromatin interactions
ENSG00000163430	chromatin interactions
ENSG00000135930	chromatin interactions
ENSG00000266620	chromatin interactions
ENSG00000221944	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56019159	chr3:120066276-120066277	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs576724179	chr3:120066279-120066280	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs113363013	chr3:120066287-120066288	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs372845860	chr3:120066291-120066292	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546219947	chr3:120066317-120066318	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370558950	chr3:120066331-120066332	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556270626	chr3:120066340-120066341	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566749360	chr3:120066361-120066362	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373667188	chr3:120066363-120066364	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535672436	chr3:120066373-120066374	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547848892	chr3:120066377-120066378	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs13327125	chr3:120066393-120066394	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562285859	chr3:120066426-120066427	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs527844751	chr3:120066536-120066537	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs372213781	chr3:120066644-120066645	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs367975820	chr3:120066668-120066669	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs6764372	chr3:120066698-120066699	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533658066	chr3:120066727-120066728	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs552184405	chr3:120066780-120066781	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs568736054	chr3:120066840-120066841	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs72956896	chr3:120066879-120066880	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11914405	chr3:120066900-120066901	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189712501	chr3:120066915-120066916	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs577055669	chr3:120066942-120066943	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs116544408	chr3:120066949-120066950	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs553542091	chr3:120066956-120066957	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs570449909	chr3:120066963-120066964	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs539755460	chr3:120066982-120066983	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs539333932	chr3:120066989-120066990	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs147869802	chr3:120067022-120067023	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs116021753	chr3:120067034-120067035	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs148502929	chr3:120067057-120067058	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs555848826	chr3:120067087-120067088	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs572565936	chr3:120067088-120067089	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs541682673	chr3:120067092-120067093	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs564654393	chr3:120067202-120067203	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs6767308	chr3:120067212-120067213	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539361575	chr3:120067213-120067214	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs543729824	chr3:120067238-120067239	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs562518747	chr3:120067257-120067258	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs531163050	chr3:120067286-120067287	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs6791815	chr3:120067316-120067317	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561488126	chr3:120067319-120067320	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs12485446	chr3:120067411-120067412	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182639173	chr3:120067494-120067495	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs373518842	chr3:120067544-120067545	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs71327223	chr3:120067563-120067564	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs72956897	chr3:120067574-120067575	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs371196223	chr3:120067599-120067600	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs201447272	chr3:120067632-120067633	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120026800-120067200	Weak transcription	Aorta	Aorta
2	chr3:120033200-120067000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:120044400-120066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:120045200-120066800	Weak transcription	Stomach Mucosa	stomach
5	chr3:120045600-120066800	Weak transcription	Colonic Mucosa	Colon
6	chr3:120048400-120066800	Weak transcription	Right Ventricle	heart
7	chr3:120051000-120067000	Weak transcription	Esophagus	oesophagus
8	chr3:120051200-120066800	Weak transcription	Psoas Muscle	Psoas
9	chr3:120051200-120066800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:120052600-120067000	Weak transcription	Left Ventricle	heart
11	chr3:120053200-120066600	Weak transcription	Fetal Kidney	kidney
12	chr3:120053800-120066600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:120053800-120066600	Weak transcription	NH-A	brain
14	chr3:120054200-120066600	Weak transcription	HUVEC	blood vessel
15	chr3:120054200-120066600	Weak transcription	K562	blood
16	chr3:120057800-120067000	Weak transcription	Small Intestine	intestine
17	chr3:120058600-120066600	Weak transcription	Fetal Lung	lung
18	chr3:120059000-120066800	Weak transcription	Placenta	Placenta
19	chr3:120060800-120066600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:120061000-120066600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:120061200-120066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:120061200-120066600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:120061400-120066800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:120061400-120066800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:120061400-120066800	Weak transcription	Gastric	stomach
26	chr3:120061400-120067000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:120061600-120066400	Weak transcription	Pancreas	Pancrea
28	chr3:120061600-120066600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:120061600-120066600	Weak transcription	Fetal Intestine Small	intestine
30	chr3:120061600-120066800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:120061600-120067000	Weak transcription	Spleen	Spleen
32	chr3:120061800-120066600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:120061800-120066800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:120062000-120066600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:120062000-120066600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:120062000-120066600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:120062000-120066600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:120062000-120066600	Weak transcription	Thymus	Thymus
39	chr3:120062000-120066800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:120062000-120066800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:120062400-120066800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr3:120062600-120066800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:120062600-120066800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:120062600-120066800	Weak transcription	HSMM	muscle
45	chr3:120062800-120066600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:120062800-120066600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr3:120062800-120066600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr3:120063000-120067000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:120063200-120066600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:120063200-120066600	Enhancers	HepG2	liver

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