Variant report

Variant	esv2759917
Chromosome Location	chr12:121415845-121584813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4840)
CpG islands
(count:3300)
Chromatin interactive
region (count:178)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:4840 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:121566854-121567036	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:121418090-121418322	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:121562061-121562665	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:121432640-121432909	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:121554555-121555038	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:121566791-121567654	K562	blood:	n/a	n/a
7	ARID3A	chr12:121523699-121523880	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:121443216-121443451	K562	blood:	n/a	n/a
9	ARID3A	chr12:121443210-121443412	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:121463440-121464449	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:121455416-121455815	HepG2	liver:	n/a	n/a
12	ARID3A	chr12:121416006-121416515	HepG2	liver:	n/a	n/a
13	ARID3A	chr12:121548072-121548453	HepG2	liver:	n/a	n/a
14	ARID3A	chr12:121497991-121498204	HepG2	liver:	n/a	n/a
15	ARID3A	chr12:121454126-121454492	HepG2	liver:	n/a	n/a
16	ATF1	chr12:121456015-121456311	K562	blood:	n/a	n/a
17	ATF1	chr12:121581689-121582010	K562	blood:	n/a	n/a
18	ATF1	chr12:121454106-121454550	K562	blood:	n/a	n/a
19	ATF1	chr12:121570380-121570704	K562	blood:	n/a	n/a
20	ATF1	chr12:121582305-121582486	K562	blood:	n/a	n/a
21	ATF1	chr12:121548142-121548488	K562	blood:	n/a	n/a
22	ATF1	chr12:121562281-121562579	K562	blood:	n/a	n/a
23	ATF1	chr12:121529137-121529138	K562	blood:	n/a	n/a
24	ATF1	chr12:121551788-121552180	K562	blood:	n/a	n/a
25	ATF1	chr12:121480947-121481240	K562	blood:	n/a	n/a
26	ATF1	chr12:121566717-121567709	K562	blood:	n/a	n/a
27	ATF1	chr12:121569831-121570036	K562	blood:	n/a	n/a
28	ATF1	chr12:121554252-121554339	K562	blood:	n/a	n/a
29	ATF1	chr12:121558234-121558481	K562	blood:	n/a	n/a
30	ATF2	chr12:121533611-121534068	GM12878	blood:	n/a	n/a
31	ATF2	chr12:121454087-121454511	GM12878	blood:	n/a	n/a
32	ATF2	chr12:121566798-121567437	GM12878	blood:	n/a	n/a
33	ATF2	chr12:121566714-121567459	GM12878	blood:	n/a	n/a
34	ATF2	chr12:121454054-121454531	GM12878	blood:	n/a	n/a
35	ATF2	chr12:121476753-121477249	GM12878	blood:	n/a	n/a
36	ATF2	chr12:121548101-121548552	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr12:121581584-121582101	GM12878	blood:	n/a	n/a
38	ATF2	chr12:121547862-121548404	GM12878	blood:	n/a	n/a
39	ATF2	chr12:121454059-121454576	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF3	chr12:121581608-121581979	K562	blood:	n/a	n/a
41	ATF3	chr12:121488586-121488835	GM12878	blood:	n/a	n/a
42	ATF3	chr12:121548098-121548416	K562	blood:	n/a	n/a
43	ATF3	chr12:121454074-121454461	H1-hESC	embryonic stem cell:	n/a	chr12:121454331-121454339 chr12:121454330-121454343 chr12:121454330-121454341 chr12:121454332-121454339 chr12:121454329-121454339 chr12:121454336-121454345 chr12:121454332-121454342 chr12:121454330-121454341 chr12:121454328-121454343 chr12:121454332-121454340
44	ATF3	chr12:121562132-121562469	A549	lung:	n/a	n/a
45	ATF3	chr12:121419340-121419824	A549	lung:	n/a	n/a
46	ATF3	chr12:121562110-121562601	HCT-116	colon:	n/a	n/a
47	ATF3	chr12:121576172-121576432	K562	blood:	n/a	n/a
48	ATF3	chr12:121562226-121562539	K562	blood:	n/a	n/a
49	ATF3	chr12:121484435-121484678	K562	blood:	n/a	n/a
50	ATF3	chr12:121523628-121523846	HepG2	liver:	n/a	n/a

(count:3300 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121477093-121477143	BJ	skin:	n/a
2	chr12:121437256-121437306	HCM	heart:	n/a
3	chr12:121570677-121570727	GM06990	blood:	n/a
4	chr12:121416510-121416560	H1-hESC	embryonic stem cell:	embryo
5	chr12:121535941-121535991	ECC-1	luminal epithelium:	n/a
6	chr12:121454837-121454887	K562	blood:	n/a
7	chr12:121477093-121477143	BJ	skin:	n/a
8	chr12:121437256-121437306	HCM	heart:	n/a
9	chr12:121570677-121570727	GM06990	blood:	n/a
10	chr12:121416510-121416560	H1-hESC	embryonic stem cell:	embryo
11	chr12:121535941-121535991	ECC-1	luminal epithelium:	n/a
12	chr12:121454837-121454887	K562	blood:	n/a
13	chr12:121416547-121416597	ProgFib	skin:	n/a
14	chr12:121454272-121454322	AG04450	lung:	fetal
15	chr12:121454133-121454183	IMR90	lung:	fetal
16	chr12:121441714-121441764	U87	brain:	n/a
17	chr12:121427430-121427480	PANC-1	pancreas:	n/a
18	chr12:121582875-121582925	SK-N-MC	brain:	n/a
19	chr12:121582875-121582925	RPTEC	kidney:	n/a
20	chr12:121416566-121416616	HNPCEpiC	eye:	n/a
21	chr12:121416501-121416551	SK-N-SH_RA	brain:	n/a
22	chr12:121533668-121533718	U87	brain:	n/a
23	chr12:121454272-121454322	BE2_C	brain:	n/a
24	chr12:121533668-121533718	HepG2	liver:	n/a
25	chr12:121416796-121416846	SAEC	small airway:	n/a
26	chr12:121427430-121427480	HCM	heart:	n/a
27	chr12:121533801-121533851	AoSMC	blood vessel:	n/a
28	chr12:121454162-121454212	SK-N-SH_RA	brain:	n/a
29	chr12:121437256-121437306	HepG2	liver:	n/a
30	chr12:121416501-121416551	H1-hESC	embryonic stem cell:	embryo
31	chr12:121450381-121450431	HRE	kidney:	n/a
32	chr12:121420721-121420771	HMEC	breast:	n/a
33	chr12:121513978-121514028	AoSMC	blood vessel:	n/a
34	chr12:121427430-121427480	AG04450	lung:	fetal
35	chr12:121477854-121477904	HIPEpiC	eye:	n/a
36	chr12:121454269-121454319	RPTEC	kidney:	n/a
37	chr12:121534028-121534078	AG09319	gingival:	n/a
38	chr12:121477061-121477111	Hela-S3	cervix:	n/a
39	chr12:121533475-121533525	HRE	kidney:	n/a
40	chr12:121571068-121571118	K562	blood:	n/a
41	chr12:121416390-121416440	LNCaP	prostate:	n/a
42	chr12:121476720-121476770	PANC-1	pancreas:	n/a
43	chr12:121454335-121454385	BE2_C	brain:	n/a
44	chr12:121416612-121416662	BJ	skin:	n/a
45	chr12:121417986-121418036	GM12892	blood:	n/a
46	chr12:121454133-121454183	HNPCEpiC	eye:	n/a
47	chr12:121454335-121454385	HRCEpiC	kidney:	n/a
48	chr12:121533668-121533718	HCT-116	colon:	n/a
49	chr12:121535941-121535991	GM12891	blood:	n/a
50	chr12:121476596-121476646	GM12892	blood:	n/a

(count:178 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr12:121561171..121566774-chr12:121646455..121649214,5	MCF-7	breast:
2	chr12:121463340..121465773-chr12:121472717..121474961,3	MCF-7	breast:
3	chr12:121578629..121580685-chr12:121583466..121586479,3	K562	blood:
4	chr12:121531941..121534103-chr12:121555507..121557731,2	K562	blood:
5	chr12:121574197..121575819-chr12:121598623..121600574,2	MCF-7	breast:
6	chr12:121429573..121432216-chr12:121437752..121440846,3	K562	blood:
7	chr12:121443137..121444963-chr12:121449625..121451218,2	K562	blood:
8	chr12:121429573..121435133-chr12:121436242..121441204,7	K562	blood:
9	chr12:121559081..121561979-chr12:121605012..121606674,2	MCF-7	breast:
10	chr12:121521510..121523846-chr12:121648119..121649813,2	MCF-7	breast:
11	chr12:121490675..121493658-chr12:121495456..121497011,2	K562	blood:
12	chr12:121446939..121449086-chr12:121451348..121453290,2	MCF-7	breast:
13	chr12:121548947..121551862-chr12:121555011..121556681,2	MCF-7	breast:
14	chr12:121540942..121542575-chr12:121550109..121552835,2	K562	blood:
15	chr12:121498108..121499039-chr12:121533443..121534521,4	MCF-7	breast:
16	chr12:121569656..121570427-chr12:121608922..121609716,2	MCF-7	breast:
17	chr12:121575022..121577625-chr12:121581601..121583531,2	MCF-7	breast:
18	chr12:121442812..121445650-chr12:121451524..121454471,3	K562	blood:
19	chr12:120803152..120806050-chr12:121419474..121422270,2	K562	blood:
20	chr12:121447247..121448275-chr12:121533293..121534356,3	MCF-7	breast:
21	chr12:121575022..121577625-chr12:121581601..121583531,2	MCF-7	breast:
22	chr12:121020917..121021868-chr12:121533219..121533885,3	K562	blood:
23	chr12:121443137..121445900-chr12:121447661..121451218,5	K562	blood:
24	chr12:121533067..121535799-chr12:121628437..121630049,2	K562	blood:
25	chr12:121540942..121542575-chr12:121550109..121552835,2	K562	blood:
26	chr12:121533631..121534218-chr12:121667773..121668734,2	K562	blood:
27	chr12:121498418..121499035-chr12:121547998..121548758,2	K562	blood:
28	chr12:121452643..121457408-chr12:121461392..121466070,6	MCF-7	breast:
29	chr12:121454608..121456254-chr12:121460515..121463475,3	K562	blood:
30	chr12:121437329..121439942-chr12:121440076..121441663,2	K562	blood:
31	chr12:121565478..121567856-chr12:121646838..121650208,3	K562	blood:
32	chr12:121568948..121571142-chr12:121574770..121577289,2	MCF-7	breast:
33	chr12:121495209..121497796-chr12:121499977..121502641,3	K562	blood:
34	chr12:121382478..121383151-chr12:121441198..121441773,2	MCF-7	breast:
35	chr12:121429573..121435133-chr12:121436242..121441204,7	K562	blood:
36	chr12:121417392..121420035-chr12:121422545..121425552,3	K562	blood:
37	chr12:121523299..121524824-chr12:121646920..121648679,2	MCF-7	breast:
38	chr12:121442844..121443785-chr12:121547734..121548804,3	K562	blood:
39	chr12:121569636..121570366-chr12:121640682..121641273,2	MCF-7	breast:
40	chr12:121576075..121577787-chr12:121578961..121580944,2	K562	blood:
41	chr12:121548947..121551862-chr12:121555011..121556681,2	MCF-7	breast:
42	chr12:121294043..121295007-chr12:121441383..121442308,2	MCF-7	breast:
43	chr12:120729256..120731429-chr12:121471533..121473045,2	MCF-7	breast:
44	chr12:121473524..121476101-chr12:121524769..121527497,2	K562	blood:
45	chr12:121509410..121511926-chr12:121521670..121523636,2	K562	blood:
46	chr12:121578629..121580685-chr12:121583466..121586479,3	K562	blood:
47	chr12:121499386..121500506-chr12:121533456..121534392,4	K562	blood:
48	chr12:121509410..121511926-chr12:121521670..121523636,2	K562	blood:
49	chr12:121498058..121498974-chr12:121533466..121534380,2	K562	blood:
50	chr12:121455739..121458547-chr12:121462154..121463997,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-P2RX7-2	chr12:121557252-121557692	XLOC_009912
2	lnc-P2RX7-6	chr12:121517645-121517927	NONHSAT031263
3	lnc-C12orf43-1	chr12:121418447-121418768	ENSG00000241388.2
4	lnc-P2RX7-2	chr12:121557252-121558609	XLOC_009912
5	lnc-P2RX7-2	chr12:121556258-121556287	XLOC_009912
6	lnc-C12orf43-1	chr12:121417417-121417550	ENSG00000241388.2
7	lnc-P2RX7-2	chr12:121555321-121555362	XLOC_009912
8	lnc-C12orf43-3	chr12:121438289-121439071	ENSG00000271769.1
9	lnc-C12orf43-1	chr12:121418447-121418709	ENSG00000241388.2

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HNF1A	hsa-miR-320a	chr12:121439680-121439702

Variant related genes	Relation type
ENSG00000271769	TF binding region
HNF1A-AS1	TF binding region
ENSG00000201945	TF binding region
P2RX7	TF binding region
C12orf43	TF binding region
ENSG00000257053	TF binding region
OASL	TF binding region
ENSG00000223538	TF binding region
HNF1A	TF binding region
ENSG00000256963	TF binding region
ENSG00000271769	CpG island
HNF1A-AS1	CpG island
ENSG00000201945	CpG island
P2RX7	CpG island
C12orf43	CpG island
ENSG00000257053	CpG island
OASL	CpG island
ENSG00000223538	CpG island
HNF1A	CpG island
ENSG00000256963	CpG island
ENSG00000175970	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000256569	chromatin interactions
ENSG00000257053	chromatin interactions
ENSG00000271769	chromatin interactions
ENSG00000135124	chromatin interactions
ENSG00000157895	chromatin interactions
ENSG00000241388	chromatin interactions
ENSG00000135114	chromatin interactions
ENSG00000089041	chromatin interactions
ENSG00000265455	chromatin interactions
ENSG00000272214	chromatin interactions
ENSG00000167272	chromatin interactions
ENSG00000135100	chromatin interactions
ENSG00000135097	chromatin interactions
ENSG00000110917	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000256963	chromatin interactions
HIVEP2	miRNA target sites

Extended variants
information (count: 6881 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:6881 , 50 per page) page: 1 2 3 4 5 6 7 ... 138

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149955929	chr12:121415857-121415858	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs543390022	chr12:121415934-121415935	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530759604	chr12:121415964-121415965	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs3809315	chr12:121416045-121416046	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs538660297	chr12:121416046-121416047	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs565482706	chr12:121416114-121416115	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs527861100	chr12:121416128-121416129	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs547593210	chr12:121416131-121416132	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs190004114	chr12:121416142-121416143	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs77774709	chr12:121416172-121416173	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs550144115	chr12:121416181-121416182	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs551789207	chr12:121416199-121416200	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs538553492	chr12:121416200-121416201	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs76729898	chr12:121416225-121416226	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs571931188	chr12:121416226-121416227	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs534474388	chr12:121416281-121416282	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs35126805	chr12:121416287-121416288	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs554400432	chr12:121416384-121416385	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs574473281	chr12:121416396-121416397	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs543092439	chr12:121416399-121416400	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs538476099	chr12:121416400-121416401	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs563304627	chr12:121416448-121416449	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs371945966	chr12:121416453-121416454	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs576862555	chr12:121416476-121416477	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs545740321	chr12:121416513-121416514	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs565546289	chr12:121416532-121416533	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs376961226	chr12:121416543-121416544	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs199945468	chr12:121416549-121416550	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs370979090	chr12:121416567-121416568	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561269721	chr12:121416568-121416569	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs193922592	chr12:121416572-121416573	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs188016232	chr12:121416585-121416586	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs1169289	chr12:121416622-121416623	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1169288	chr12:121416650-121416651	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
35	rs137853247	chr12:121416663-121416664	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs538619966	chr12:121416670-121416671	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139742280	chr12:121416671-121416672	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145314420	chr12:121416673-121416674	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs193922578	chr12:121416701-121416702	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373180062	chr12:121416710-121416711	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs193922583	chr12:121416721-121416722	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs142318174	chr12:121416726-121416727	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs150195625	chr12:121416727-121416728	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs193922588	chr12:121416740-121416741	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377129682	chr12:121416756-121416757	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188085301	chr12:121416774-121416775	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs146686581	chr12:121416781-121416782	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148961412	chr12:121416787-121416788	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs202180554	chr12:121416796-121416797	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs143753579	chr12:121416807-121416808	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3652 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121400600-121416000	Weak transcription	Small Intestine	intestine
2	chr12:121408200-121417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:121409600-121418400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:121409600-121422200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:121410000-121418600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:121411200-121416000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:121411400-121418200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:121411400-121418200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:121412200-121416000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:121412200-121416000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:121414200-121417600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
12	chr12:121414600-121418800	Active TSS	Gastric	stomach
13	chr12:121414600-121419000	Weak transcription	Fetal Lung	lung
14	chr12:121415200-121416200	Flanking Active TSS	Liver	Liver
15	chr12:121415400-121416200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr12:121415400-121416400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:121415400-121418800	Active TSS	Rectal Smooth Muscle	rectum
18	chr12:121415400-121419200	Active TSS	Fetal Kidney	kidney
19	chr12:121415400-121419800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:121415600-121416000	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
21	chr12:121415600-121416000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr12:121415600-121416200	Flanking Active TSS	Colonic Mucosa	Colon
23	chr12:121415600-121416200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
24	chr12:121415600-121416200	Flanking Active TSS	Pancreas	Pancrea
25	chr12:121415600-121416200	Flanking Active TSS	Stomach Mucosa	stomach
26	chr12:121415600-121416200	Flanking Active TSS	A549	lung
27	chr12:121415600-121416800	Active TSS	Stomach Smooth Muscle	stomach
28	chr12:121415600-121418600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:121415800-121416000	Enhancers	Colon Smooth Muscle	Colon
30	chr12:121415800-121416000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
31	chr12:121415800-121416200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr12:121415800-121416200	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr12:121416000-121416200	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr12:121416000-121416600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:121416000-121417400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:121416000-121418800	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr12:121416000-121418800	Active TSS	Small Intestine	intestine
38	chr12:121416000-121419000	Active TSS	Fetal Intestine Large	intestine
39	chr12:121416000-121419000	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr12:121416000-121419200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr12:121416200-121416400	Active TSS	Fetal Stomach	stomach
42	chr12:121416200-121416400	Active TSS	A549	lung
43	chr12:121416200-121416600	Active TSS	Colon Smooth Muscle	Colon
44	chr12:121416200-121418000	Bivalent/Poised TSS	HepG2	liver
45	chr12:121416200-121418400	Active TSS	Liver	Liver
46	chr12:121416200-121418800	Active TSS	Pancreas	Pancrea
47	chr12:121416200-121419000	Active TSS	Colonic Mucosa	Colon
48	chr12:121416200-121419000	Active TSS	Duodenum Mucosa	Duodenum
49	chr12:121416200-121419000	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr12:121416200-121419000	Active TSS	Stomach Mucosa	stomach

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