Variant report

Variant	esv3423651
Chromosome Location	chr12:49760110-49762658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:709)
CpG islands
(count:427)
Chromatin interactive
region (count:61)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:709 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:49760556-49760756	K562	blood:	n/a	n/a
2	ARID3A	chr12:49760811-49761299	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:49761016-49761204	K562	blood:	n/a	n/a
4	ARID3A	chr12:49761781-49762724	K562	blood:	n/a	n/a
5	ATF2	chr12:49760320-49761440	GM12878	blood:	n/a	n/a
6	ATF3	chr12:49761441-49762278	A549	lung:	n/a	n/a
7	ATF3	chr12:49760277-49761141	A549	lung:	n/a	chr12:49761093-49761102 chr12:49760669-49760678 chr12:49760671-49760680
8	BACH1	chr12:49762368-49762817	K562	blood:	n/a	n/a
9	BACH1	chr12:49761003-49761065	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr12:49762532-49762810	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr12:49760516-49761372	A549	lung:	n/a	chr12:49760690-49760703
12	BCLAF1	chr12:49760124-49761159	GM12878	blood:	n/a	chr12:49760690-49760703
13	BHLHE40	chr12:49760425-49761287	GM12878	blood:	n/a	chr12:49761104-49761120
14	BHLHE40	chr12:49760279-49761297	K562	blood:	n/a	chr12:49761104-49761120
15	BRCA1	chr12:49761004-49761126	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr12:49760467-49760546	HepG2	liver:	n/a	n/a
17	BRCA1	chr12:49760320-49761182	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr12:49760303-49761304	K562	blood:	n/a	n/a
19	CCNT2	chr12:49760244-49761501	K562	blood:	n/a	chr12:49760770-49760779 chr12:49761121-49761130
20	CEBPB	chr12:49760362-49761295	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr12:49760415-49760753	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr12:49760412-49760752	HepG2	liver:	n/a	n/a
23	CEBPB	chr12:49760252-49760845	MCF-7	breast:	n/a	n/a
24	CEBPB	chr12:49760267-49760894	A549	lung:	n/a	n/a
25	CEBPB	chr12:49760369-49760751	IMR90	lung:	n/a	n/a
26	CEBPB	chr12:49760486-49760721	K562	blood:	n/a	n/a
27	CEBPD	chr12:49760757-49761435	HepG2	liver:	n/a	n/a
28	CEBPD	chr12:49760389-49760744	HepG2	liver:	n/a	n/a
29	CHD1	chr12:49760333-49761155	GM12878	blood:	n/a	chr12:49761099-49761109 chr12:49760911-49760921 chr12:49761094-49761104
30	CHD1	chr12:49761492-49761925	GM12878	blood:	n/a	n/a
31	CHD1	chr12:49760181-49760275	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr12:49760719-49760919	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr12:49760844-49761340	K562	blood:	n/a	chr12:49761099-49761109 chr12:49760911-49760921 chr12:49761094-49761104
34	CHD2	chr12:49760859-49761356	HepG2	liver:	n/a	chr12:49761099-49761109 chr12:49760911-49760921 chr12:49761094-49761104
35	CHD2	chr12:49760947-49761280	H1-hESC	embryonic stem cell:	n/a	chr12:49761099-49761109 chr12:49761094-49761104
36	CHD2	chr12:49760340-49761385	GM12878	blood:	n/a	chr12:49761099-49761109 chr12:49760911-49760921 chr12:49761094-49761104
37	CHD2	chr12:49760374-49761753	Hela-S3	cervix:	n/a	chr12:49761099-49761109 chr12:49760911-49760921 chr12:49761094-49761104
38	CREB1	chr12:49760096-49761442	A549	lung:	n/a	n/a
39	CREB1	chr12:49760090-49761440	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr12:49760400-49760550	GM06990	blood:	n/a	n/a
41	CTCF	chr12:49760420-49760570	HAc	cerebellar:	n/a	n/a
42	CTCF	chr12:49760520-49760670	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr12:49760420-49760570	GM12867	blood:	n/a	n/a
44	CTCF	chr12:49760460-49760610	AG09309	skin:	n/a	n/a
45	CTCF	chr12:49760460-49760610	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr12:49760480-49760630	AG10803	skin:	n/a	n/a
47	CTCF	chr12:49760400-49760690	MCF-7	breast:	n/a	n/a
48	CTCF	chr12:49760460-49760610	GM06990	blood:	n/a	n/a
49	CTCF	chr12:49760505-49760653	GM10248	blood:	n/a	n/a
50	CTCF	chr12:49760500-49760650	HBMEC	blood vessel:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49760396-49760446	GM19239	blood:	n/a
2	chr12:49760522-49760572	AG09309	skin:	n/a
3	chr12:49760222-49760272	MCF-7	breast:	n/a
4	chr12:49760222-49760272	CMK	blood:	n/a
5	chr12:49760522-49760572	AG04449	skin:	fetal
6	chr12:49760522-49760572	Jurkat	blood:	n/a
7	chr12:49760396-49760446	GM06990	blood:	n/a
8	chr12:49760396-49760446	HUVEC	blood vessel:	n/a
9	chr12:49760878-49760928	NH-A	brain:	n/a
10	chr12:49760606-49760656	AG04449	skin:	fetal
11	chr12:49760522-49760572	RPTEC	kidney:	n/a
12	chr12:49760222-49760272	HRPEpiC	eye:	n/a
13	chr12:49761165-49761215	PrEC	prostate:	n/a
14	chr12:49760606-49760656	HCM	heart:	n/a
15	chr12:49761165-49761215	HepG2	liver:	n/a
16	chr12:49760222-49760272	A549	lung:	n/a
17	chr12:49761596-49761646	PFSK-1	brain:	n/a
18	chr12:49760606-49760656	Caco-2	colon:	n/a
19	chr12:49760878-49760928	HCM	heart:	n/a
20	chr12:49761596-49761646	T-47D	breast:	n/a
21	chr12:49760396-49760446	K562	blood:	n/a
22	chr12:49760396-49760446	MCF10A-Er-Src	breast:	n/a
23	chr12:49760396-49760446	HRPEpiC	eye:	n/a
24	chr12:49760222-49760272	AG09309	skin:	n/a
25	chr12:49761165-49761215	AoSMC	blood vessel:	n/a
26	chr12:49760222-49760272	H1-hESC	embryonic stem cell:	embryo
27	chr12:49760222-49760272	AoSMC	blood vessel:	n/a
28	chr12:49760606-49760656	U87	brain:	n/a
29	chr12:49760222-49760272	HIPEpiC	eye:	n/a
30	chr12:49760606-49760656	GM19239	blood:	n/a
31	chr12:49760522-49760572	CMK	blood:	n/a
32	chr12:49760878-49760928	SK-N-MC	brain:	n/a
33	chr12:49760522-49760572	HCF	heart:	n/a
34	chr12:49760606-49760656	SK-N-SH_RA	brain:	n/a
35	chr12:49761596-49761646	A549	lung:	n/a
36	chr12:49760396-49760446	SK-N-SH_RA	brain:	n/a
37	chr12:49760522-49760572	ProgFib	skin:	n/a
38	chr12:49760396-49760446	HL-60	blood:	n/a
39	chr12:49761596-49761646	AoSMC	blood vessel:	n/a
40	chr12:49761596-49761646	Hepatocyte	liver:	n/a
41	chr12:49760396-49760446	PrEC	prostate:	n/a
42	chr12:49761165-49761215	HPAEpiC	pulmonary alveolar:	n/a
43	chr12:49760878-49760928	HMEC	breast:	n/a
44	chr12:49761596-49761646	K562	blood:	n/a
45	chr12:49760878-49760928	HCF	heart:	n/a
46	chr12:49760222-49760272	HAEpiC	amniotic membrane:	n/a
47	chr12:49761596-49761646	NH-A	brain:	n/a
48	chr12:49760878-49760928	SAEC	small airway:	n/a
49	chr12:49760396-49760446	AoSMC	blood vessel:	n/a
50	chr12:49760878-49760928	AG04449	skin:	fetal

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:49758243..49761237-chr12:50135535..50137212,2	MCF-7	breast:
2	chr12:49762463..49764079-chr12:49764319..49766160,2	K562	blood:
3	chr12:49745336..49748188-chr12:49759488..49762139,2	K562	blood:
4	chr12:49729980..49732705-chr12:49760412..49762088,2	K562	blood:
5	chr12:49759029..49763168-chr12:49779946..49784312,5	MCF-7	breast:
6	chr12:49730111..49734791-chr12:49758969..49762593,4	MCF-7	breast:
7	chr12:49740569..49744952-chr12:49759719..49761508,3	K562	blood:
8	chr1:249152247..249152996-chr12:49760452..49760979,2	Hela-S3	cervix:
9	chr12:49759499..49761453-chr12:49953026..49955590,2	MCF-7	breast:
10	chr12:49758876..49762155-chr12:49906533..49909731,5	MCF-7	breast:
11	chr12:49656837..49661590-chr12:49759665..49765017,7	K562	blood:
12	chr12:49760716..49761306-chr5:153824848..153825575,2	Hela-S3	cervix:
13	chr12:49657571..49662873-chr12:49757027..49762131,10	K562	blood:
14	chr12:49729980..49733163-chr12:49759007..49762779,4	K562	blood:
15	chr1:178062063..178062911-chr12:49760494..49761260,2	Hela-S3	cervix:
16	chr12:49757911..49761864-chr12:50015854..50019350,3	K562	blood:
17	chr12:49757985..49760399-chr12:49762224..49765637,3	MCF-7	breast:
18	chr12:49760548..49762232-chr12:49762268..49764290,2	MCF-7	breast:
19	chr12:49759638..49761406-chr12:49937675..49939250,2	MCF-7	breast:
20	chr12:49759192..49762198-chr12:50016828..50018696,3	MCF-7	breast:
21	chr12:49760593..49761565-chr3:183979036..183979812,2	Hela-S3	cervix:
22	chr12:49740075..49745225-chr12:49756992..49761732,8	K562	blood:
23	chr12:49759421..49761447-chr17:56735493..56738018,2	MCF-7	breast:
24	chr12:49759487..49762377-chr12:49960316..49963479,6	K562	blood:
25	chr12:49761628..49763980-chr12:49778457..49780387,2	K562	blood:
26	chr12:49757995..49761023-chr12:49883452..49885795,3	MCF-7	breast:
27	chr1:45987092..45987937-chr12:49760616..49761183,2	Hela-S3	cervix:
28	chr12:49390072..49392510-chr12:49759241..49762093,2	K562	blood:
29	chr12:49759570..49762166-chr12:49852805..49855688,2	MCF-7	breast:
30	chr12:49761594..49763714-chr12:49934318..49937215,2	K562	blood:
31	chr12:49759045..49761163-chr12:50015602..50018404,2	MCF-7	breast:
32	chr12:6579825..6580446-chr12:49760124..49760909,2	Hela-S3	cervix:
33	chr12:49739131..49745064-chr12:49758784..49762517,10	MCF-7	breast:
34	chr12:49758102..49760925-chr12:49950793..49953218,2	MCF-7	breast:
35	chr12:49760432..49761123-chr12:56123061..56123918,2	Hela-S3	cervix:
36	chr12:3067959..3068514-chr12:49760628..49761230,2	Hela-S3	cervix:
37	chr12:49760412..49761224-chr3:49058710..49059332,2	Hela-S3	cervix:
38	chr12:49760799..49761550-chr3:149530090..149530799,2	Hela-S3	cervix:
39	chr12:49740264..49744957-chr12:49759411..49762039,7	MCF-7	breast:
40	chr10:102820422..102821321-chr12:49760766..49761695,2	HCT-116	colon:
41	chr12:49759630..49760473-chr12:49907526..49908336,2	MCF-7	breast:
42	chr12:49760226..49761054-chr6:26020583..26021188,2	Hela-S3	cervix:
43	chr12:49689044..49692243-chr12:49760659..49764012,4	MCF-7	breast:
44	chr12:49759353..49762276-chr12:49930939..49933731,4	K562	blood:
45	chr12:49760716..49761623-chr6:27114635..27115297,2	Hela-S3	cervix:
46	chr12:49760364..49760986-chr16:57480845..57481573,2	Hela-S3	cervix:
47	chr12:49760885..49761567-chr19:39137909..39138667,2	HCT-116	colon:
48	chr12:49759519..49761735-chr12:49853453..49856491,3	K562	blood:
49	chr12:49759096..49761213-chr12:49881834..49884299,3	K562	blood:
50	chr12:49759658..49762377-chr12:49960316..49963047,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJC22-3	chr12:49761330-49761370	NONHSAT028105

No data

Variant related genes	Relation type
SPATS2	TF binding region
SPATS2	CpG island
ENSG00000139644	chromatin interactions
ENSG00000075391	chromatin interactions
ENSG00000163882	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000178401	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000088682	chromatin interactions
ENSG00000245275	chromatin interactions
ENSG00000164576	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000186897	chromatin interactions
ENSG00000135519	chromatin interactions
ENSG00000173852	chromatin interactions
ENSG00000110844	chromatin interactions
ENSG00000135404	chromatin interactions
ENSG00000165480	chromatin interactions
ENSG00000153234	chromatin interactions
ENSG00000135406	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000258334	chromatin interactions
ENSG00000257913	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000130402	chromatin interactions
ENSG00000224687	chromatin interactions
ENSG00000123352	chromatin interactions
ENSG00000185022	chromatin interactions
ENSG00000005194	chromatin interactions
ENSG00000139190	chromatin interactions
ENSG00000197905	chromatin interactions
ENSG00000173141	chromatin interactions
ENSG00000082996	chromatin interactions
ENSG00000273162	chromatin interactions
ENSG00000163888	chromatin interactions
ENSG00000171163	chromatin interactions
ENSG00000187778	chromatin interactions
ENSG00000257954	chromatin interactions
ENSG00000135451	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573544156	chr12:49760122-49760123	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs149914057	chr12:49760143-49760144	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs73112173	chr12:49760147-49760148	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs185547533	chr12:49760172-49760173	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs575206126	chr12:49760175-49760176	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs146458560	chr12:49760247-49760248	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs554626129	chr12:49760252-49760253	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs574226458	chr12:49760269-49760270	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs558357994	chr12:49760314-49760315	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs143592547	chr12:49760327-49760328	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs540004741	chr12:49760343-49760344	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs369282541	chr12:49760394-49760395	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
13	rs532224854	chr12:49760414-49760415	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
14	rs540910400	chr12:49760420-49760421	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
15	rs551440498	chr12:49760440-49760441	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
16	rs7488783	chr12:49760499-49760500	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562678975	chr12:49760516-49760517	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
18	rs530932594	chr12:49760520-49760521	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
19	rs573946247	chr12:49760525-49760526	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
20	rs567735856	chr12:49760529-49760530	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
21	rs530236871	chr12:49760542-49760543	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
22	rs547187610	chr12:49760562-49760563	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
23	rs567074799	chr12:49760565-49760566	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
24	rs565881951	chr12:49760584-49760585	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
25	rs190704661	chr12:49760586-49760587	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
26	rs539298878	chr12:49760600-49760601	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
27	rs559199012	chr12:49760604-49760605	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
28	rs569476963	chr12:49760654-49760655	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
29	rs569750716	chr12:49760672-49760673	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
30	rs554283685	chr12:49760685-49760686	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
31	rs574164091	chr12:49760707-49760708	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
32	rs183125325	chr12:49760709-49760710	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
33	rs537038480	chr12:49760736-49760737	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
34	rs553507679	chr12:49760760-49760761	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
35	rs576616558	chr12:49760790-49760791	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
36	rs544631948	chr12:49760811-49760812	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
37	rs548913537	chr12:49760895-49760896	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
38	rs531544336	chr12:49760922-49760923	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
39	rs544562634	chr12:49760928-49760929	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
40	rs561289334	chr12:49760952-49760953	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
41	rs530170291	chr12:49760958-49760959	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
42	rs547126113	chr12:49760986-49760987	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
43	rs567013518	chr12:49761031-49761032	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
44	rs139851159	chr12:49761092-49761093	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
45	rs552529657	chr12:49761123-49761124	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
46	rs569498747	chr12:49761151-49761152	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
47	rs538178814	chr12:49761170-49761171	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
48	rs554499478	chr12:49761241-49761242	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
49	rs567724963	chr12:49761287-49761288	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
50	rs533581820	chr12:49761319-49761320	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49758800-49760200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:49759200-49760400	Flanking Active TSS	NHEK	skin
3	chr12:49759400-49760200	Flanking Active TSS	Dnd41	blood
4	chr12:49759600-49760200	Enhancers	Spleen	Spleen
5	chr12:49759600-49760200	Active TSS	HepG2	liver
6	chr12:49759600-49760400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:49759600-49760400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:49759600-49760400	Flanking Active TSS	K562	blood
9	chr12:49759600-49760600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:49759600-49762000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:49759600-49762000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:49759600-49762200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:49759600-49762600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr12:49759600-49762600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:49759600-49763000	Active TSS	A549	lung
16	chr12:49759800-49760200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:49759800-49760400	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr12:49759800-49760400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr12:49759800-49760400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:49759800-49760400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:49759800-49760400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr12:49759800-49760400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:49759800-49761000	Enhancers	Fetal Brain Male	brain
24	chr12:49759800-49761600	Active TSS	Placenta	Placenta
25	chr12:49759800-49761600	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr12:49759800-49761600	Active TSS	Rectal Smooth Muscle	rectum
27	chr12:49759800-49761800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:49759800-49761800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:49759800-49761800	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr12:49759800-49761800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:49759800-49761800	Active TSS	Hela-S3	cervix
32	chr12:49759800-49762000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:49759800-49762000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:49759800-49762000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr12:49759800-49762000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:49759800-49762200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr12:49759800-49762200	Active TSS	Colonic Mucosa	Colon
38	chr12:49759800-49762200	Active TSS	Fetal Intestine Large	intestine
39	chr12:49759800-49762400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:49759800-49762600	Active TSS	HSMM	muscle
41	chr12:49759800-49763200	Active TSS	GM12878-XiMat	blood
42	chr12:49759800-49764000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr12:49760000-49760200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:49760000-49760200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:49760000-49760200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr12:49760000-49760200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr12:49760000-49760200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr12:49760000-49760200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr12:49760000-49760200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:49760000-49760200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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