Variant report

Variant	esv3429239
Chromosome Location	chr12:57915210-57918058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:841)
CpG islands
(count:673)
Chromatin interactive
region (count:70)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:57915981-57916480	HepG2	liver:	n/a	n/a
2	ATF1	chr12:57915792-57916273	K562	blood:	n/a	n/a
3	ATF2	chr12:57915559-57916525	GM12878	blood:	n/a	n/a
4	ATF2	chr12:57915699-57916246	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:57915769-57916190	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr12:57915625-57916362	GM12878	blood:	n/a	n/a
7	ATF3	chr12:57915974-57916524	K562	blood:	n/a	chr12:57916084-57916093
8	BACH1	chr12:57915754-57916344	K562	blood:	n/a	n/a
9	BACH1	chr12:57917424-57917505	K562	blood:	n/a	n/a
10	BACH1	chr12:57916037-57916433	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr12:57915648-57916514	A549	lung:	n/a	chr12:57916338-57916351
12	BCL3	chr12:57915855-57916434	A549	lung:	n/a	chr12:57916338-57916351
13	BCL3	chr12:57916907-57917922	A549	lung:	n/a	chr12:57917163-57917172
14	BCL3	chr12:57916903-57917779	A549	lung:	n/a	chr12:57917163-57917172
15	BCLAF1	chr12:57915642-57916500	GM12878	blood:	n/a	chr12:57916338-57916351
16	BHLHE40	chr12:57915935-57916246	A549	lung:	n/a	n/a
17	BHLHE40	chr12:57915952-57916416	HepG2	liver:	n/a	n/a
18	BHLHE40	chr12:57915449-57916596	K562	blood:	n/a	n/a
19	BHLHE40	chr12:57916998-57917284	K562	blood:	n/a	n/a
20	BHLHE40	chr12:57918003-57918172	K562	blood:	n/a	n/a
21	BHLHE40	chr12:57915665-57916767	HepG2	liver:	n/a	chr12:57916650-57916666 chr12:57916653-57916669 chr12:57916649-57916665
22	BHLHE40	chr12:57915750-57916775	GM12878	blood:	n/a	chr12:57916650-57916666 chr12:57916653-57916669 chr12:57916649-57916665
23	BRCA1	chr12:57916199-57916370	GM12878	blood:	n/a	n/a
24	BRCA1	chr12:57915396-57915572	GM12878	blood:	n/a	n/a
25	BRCA1	chr12:57915703-57916411	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr12:57915458-57915696	HepG2	liver:	n/a	n/a
27	BRCA1	chr12:57917152-57917196	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr12:57916632-57916783	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr12:57915906-57916323	HepG2	liver:	n/a	n/a
30	CBX3	chr12:57915347-57916407	K562	blood:	n/a	n/a
31	CCNT2	chr12:57915547-57916846	K562	blood:	n/a	chr12:57916395-57916404
32	CEBPB	chr12:57915727-57916391	MCF-7	breast:	n/a	n/a
33	CEBPB	chr12:57915768-57916588	HepG2	liver:	n/a	n/a
34	CEBPB	chr12:57915647-57916397	GM12878	blood:	n/a	n/a
35	CEBPB	chr12:57916710-57916721	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr12:57915812-57916240	HepG2	liver:	n/a	n/a
37	CEBPB	chr12:57915728-57916579	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr12:57915812-57916171	K562	blood:	n/a	n/a
39	CEBPB	chr12:57915761-57916304	K562	blood:	n/a	n/a
40	CEBPB	chr12:57917223-57917573	HepG2	liver:	n/a	chr12:57917417-57917428 chr12:57917394-57917405
41	CEBPB	chr12:57917224-57917579	IMR90	lung:	n/a	chr12:57917417-57917428 chr12:57917394-57917405
42	CEBPB	chr12:57917245-57917575	K562	blood:	n/a	chr12:57917417-57917428 chr12:57917394-57917405
43	CEBPB	chr12:57915778-57916303	IMR90	lung:	n/a	n/a
44	CEBPB	chr12:57915782-57916328	A549	lung:	n/a	n/a
45	CEBPB	chr12:57917227-57917593	A549	lung:	n/a	chr12:57917417-57917428 chr12:57917394-57917405
46	CEBPB	chr12:57915669-57916460	A549	lung:	n/a	n/a
47	CEBPB	chr12:57915864-57916180	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr12:57917223-57917590	HepG2	liver:	n/a	chr12:57917417-57917428 chr12:57917394-57917405
49	CEBPB	chr12:57917217-57917579	Hela-S3	cervix:	n/a	chr12:57917417-57917428 chr12:57917394-57917405
50	CEBPB	chr12:57915771-57916323	HepG2	liver:	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	chr12:57916571-57916621	CMK	blood:	n/a
2	chr12:57916622-57916672	U87	brain:	n/a
3	chr12:57916571-57916621	CMK	blood:	n/a
4	chr12:57916622-57916672	U87	brain:	n/a
5	chr12:57917206-57917256	IMR90	lung:	fetal
6	chr12:57915618-57915668	HCPEpiC	choroid plexus:	n/a
7	chr12:57916109-57916159	AG04450	lung:	fetal
8	chr12:57916622-57916672	NB4	blood:	n/a
9	chr12:57916622-57916672	GM06990	blood:	n/a
10	chr12:57916571-57916621	ProgFib	skin:	n/a
11	chr12:57917389-57917439	IMR90	lung:	fetal
12	chr12:57916622-57916672	HUVEC	blood vessel:	n/a
13	chr12:57916571-57916621	NHBE	bronchial:	n/a
14	chr12:57916344-57916394	T-47D	breast:	n/a
15	chr12:57916622-57916672	K562	blood:	n/a
16	chr12:57916558-57916608	NHBE	bronchial:	n/a
17	chr12:57916622-57916672	NH-A	brain:	n/a
18	chr12:57916558-57916608	Caco-2	colon:	n/a
19	chr12:57916109-57916159	A549	lung:	n/a
20	chr12:57916109-57916159	Hela-S3	cervix:	n/a
21	chr12:57917206-57917256	CMK	blood:	n/a
22	chr12:57915636-57915686	HMEC	breast:	n/a
23	chr12:57916344-57916394	SAEC	small airway:	n/a
24	chr12:57916558-57916608	SKMC	muscle:	n/a
25	chr12:57917206-57917256	Caco-2	colon:	n/a
26	chr12:57916109-57916159	HepG2	liver:	n/a
27	chr12:57915618-57915668	SK-N-SH_RA	brain:	n/a
28	chr12:57917389-57917439	H1-hESC	embryonic stem cell:	embryo
29	chr12:57916571-57916621	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:57915613-57915663	LNCaP	prostate:	n/a
31	chr12:57916558-57916608	PFSK-1	brain:	n/a
32	chr12:57915555-57915605	AG04449	skin:	fetal
33	chr12:57915618-57915668	NT2-D1	testis:	n/a
34	chr12:57915555-57915605	NHDF-neo	bronchial:	n/a
35	chr12:57916109-57916159	Hepatocyte	liver:	n/a
36	chr12:57916622-57916672	H1-hESC	embryonic stem cell:	embryo
37	chr12:57917206-57917256	BJ	skin:	n/a
38	chr12:57915613-57915663	AG09319	gingival:	n/a
39	chr12:57916344-57916394	HEK293	kidney:	embryo
40	chr12:57915636-57915686	K562	blood:	n/a
41	chr12:57916109-57916159	CMK	blood:	n/a
42	chr12:57916571-57916621	MCF-7	breast:	n/a
43	chr12:57915618-57915668	AG04450	lung:	fetal
44	chr12:57915613-57915663	HRPEpiC	eye:	n/a
45	chr12:57917206-57917256	SK-N-SH_RA	brain:	n/a
46	chr12:57916571-57916621	H1-hESC	embryonic stem cell:	embryo
47	chr12:57915636-57915686	GM12891	blood:	n/a
48	chr12:57916558-57916608	HUVEC	blood vessel:	n/a
49	chr12:57916344-57916394	H1-hESC	embryonic stem cell:	embryo
50	chr12:57916109-57916159	HCPEpiC	choroid plexus:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:57880552..57883318-chr12:57915762..57917586,2	MCF-7	breast:
2	chr12:57481972..57484968-chr12:57912943..57915711,3	K562	blood:
3	chr12:57915553..57917499-chr12:58144787..58147876,3	K562	blood:
4	chr12:57912814..57915992-chr12:58164344..58170030,6	K562	blood:
5	chr12:57871719..57874359-chr12:57913952..57915597,2	MCF-7	breast:
6	chr12:57908910..57916122-chr12:58022622..58031573,17	K562	blood:
7	chr12:57914797..57916581-chr12:58144797..58147078,2	MCF-7	breast:
8	chr12:57913091..57915646-chr12:58010883..58013272,4	K562	blood:
9	chr12:57913785..57915861-chr12:58131130..58132834,2	MCF-7	breast:
10	chr12:57915782..57916713-chr12:58026905..58027434,2	MCF-7	breast:
11	chr12:57915482..57918597-chr12:58119014..58121092,3	MCF-7	breast:
12	chr12:57913089..57916136-chr12:58086816..58089656,3	MCF-7	breast:
13	chr12:57480746..57483234-chr12:57915069..57916762,2	MCF-7	breast:
14	chr12:57914171..57915978-chr17:7477098..7479787,2	K562	blood:
15	chr12:57082052..57084048-chr12:57915298..57917787,2	K562	blood:
16	chr12:57911911..57916321-chr12:58013702..58018076,7	K562	blood:
17	chr12:57908910..57916403-chr12:58022622..58028885,15	K562	blood:
18	chr12:57881044..57886958-chr12:57910925..57918058,16	MCF-7	breast:
19	chr12:57890573..57894514-chr12:57912146..57915649,5	MCF-7	breast:
20	chr12:57879207..57888227-chr12:57906247..57918451,36	K562	blood:
21	chr12:57912826..57917389-chr12:58135038..58139778,7	K562	blood:
22	chr12:57911754..57916322-chr12:58006406..58010716,5	K562	blood:
23	chr12:57880356..57884964-chr12:57910434..57915758,10	MCF-7	breast:
24	chr12:57913372..57915977-chr12:58164344..58168645,6	K562	blood:
25	chr12:57914619..57916153-chr12:57984112..57986210,2	K562	blood:
26	chr12:57915543..57917497-chr12:58086337..58088295,2	K562	blood:
27	chr12:57889487..57901620-chr12:57907600..57919310,30	K562	blood:
28	chr12:57844795..57846828-chr12:57912360..57915235,2	K562	blood:
29	chr12:57633994..57636075-chr12:57915508..57917447,2	MCF-7	breast:
30	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
31	chr12:57915284..57917737-chr12:58135302..58137824,2	K562	blood:
32	chr12:57849885..57859254-chr12:57908711..57915821,16	K562	blood:
33	chr12:57912759..57917021-chr12:58137187..58141030,5	MCF-7	breast:
34	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:
35	chr12:57916409..57919050-chr12:57983099..57985919,3	MCF-7	breast:
36	chr12:57896559..57899422-chr12:57912129..57915670,4	MCF-7	breast:
37	chr12:57911699..57918406-chr12:58000825..58010019,18	K562	blood:
38	chr12:57912789..57915911-chr12:58119258..58122771,4	MCF-7	breast:
39	chr12:57622307..57625065-chr12:57914079..57916302,2	K562	blood:
40	chr12:57915798..57916394-chrX:118740034..118740679,2	Hela-S3	cervix:
41	chr12:57913915..57915790-chr12:58160271..58161971,2	K562	blood:
42	chr12:57822673..57825673-chr12:57914537..57916745,4	K562	blood:
43	chr12:57916469..57918452-chr12:58024223..58025919,2	K562	blood:
44	chr12:57022647..57024200-chr12:57914348..57917342,2	MCF-7	breast:
45	chr12:57482455..57482983-chr12:57915647..57916484,3	MCF-7	breast:
46	chr12:57916512..57918954-chr12:58138893..58140769,2	MCF-7	breast:
47	chr12:57879869..57888452-chr12:57905809..57918310,36	K562	blood:
48	chr12:57915577..57917168-chr12:58328157..58330221,2	K562	blood:
49	chr12:57913428..57916180-chr12:58009743..58011363,2	MCF-7	breast:
50	chr12:57913580..57915686-chr3:186500312..186502115,2	K562	blood:

No data

Variant related genes	Relation type
MBD6	TF binding region
MIR616	TF binding region
DDIT3	TF binding region
MBD6	CpG island
MIR616	CpG island
DDIT3	CpG island
ENSG00000166888	chromatin interactions
ENSG00000255737	chromatin interactions
ENSG00000196531	chromatin interactions
ENSG00000161960	chromatin interactions
ENSG00000266465	chromatin interactions
ENSG00000139269	chromatin interactions
ENSG00000135506	chromatin interactions
ENSG00000185633	chromatin interactions
ENSG00000257698	chromatin interactions
ENSG00000257499	chromatin interactions
ENSG00000257921	chromatin interactions
ENSG00000258001	chromatin interactions
ENSG00000224713	chromatin interactions
ENSG00000135502	chromatin interactions
ENSG00000123329	chromatin interactions
ENSG00000156976	chromatin interactions
ENSG00000135454	chromatin interactions
ENSG00000209582	chromatin interactions
ENSG00000139266	chromatin interactions
ENSG00000166886	chromatin interactions
ENSG00000135439	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000179912	chromatin interactions
ENSG00000135446	chromatin interactions
ENSG00000166881	chromatin interactions
ENSG00000037897	chromatin interactions
ENSG00000178498	chromatin interactions
ENSG00000135452	chromatin interactions
ENSG00000111087	chromatin interactions
ENSG00000263826	chromatin interactions
ENSG00000111012	chromatin interactions
ENSG00000240771	chromatin interactions
ENSG00000076108	chromatin interactions
ENSG00000153885	chromatin interactions
ENSG00000182199	chromatin interactions
ENSG00000123427	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000166908	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534002803	chr12:57915273-57915274	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
2	rs536530327	chr12:57915292-57915293	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
3	rs548100714	chr12:57915307-57915308	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
4	rs569487118	chr12:57915327-57915328	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
5	rs537955101	chr12:57915330-57915331	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
6	rs28382833	chr12:57915341-57915342	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	mRNA abundance
7	rs188357479	chr12:57915461-57915462	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
8	rs145838258	chr12:57915478-57915479	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
9	rs554115146	chr12:57915501-57915502	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
10	rs148981854	chr12:57915634-57915635	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
11	rs375473718	chr12:57915640-57915641	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
12	rs533485407	chr12:57915671-57915672	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
13	rs1148550	chr12:57915680-57915681	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	38 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547256007	chr12:57915742-57915743	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
15	rs576669904	chr12:57915780-57915781	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
16	rs3847699	chr12:57915807-57915808	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	35 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191571963	chr12:57915849-57915850	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
18	rs532221783	chr12:57915870-57915871	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
19	rs184087949	chr12:57915887-57915888	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
20	rs143687937	chr12:57915953-57915954	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
21	rs529968691	chr12:57916011-57916012	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
22	rs1148557	chr12:57916042-57916043	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569526938	chr12:57916058-57916059	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
24	rs527419364	chr12:57916084-57916085	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
25	rs375623461	chr12:57916127-57916128	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
26	rs367761860	chr12:57916137-57916138	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
27	rs551951345	chr12:57916161-57916162	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
28	rs571436373	chr12:57916174-57916175	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
29	rs539108245	chr12:57916225-57916226	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
30	rs377034731	chr12:57916232-57916233	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
31	rs56768332	chr12:57916254-57916255	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
32	rs369578347	chr12:57916257-57916258	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
33	rs577231876	chr12:57916344-57916345	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs553899449	chr12:57916345-57916346	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs566017224	chr12:57916356-57916357	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs368767259	chr12:57916384-57916385	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs190037575	chr12:57916520-57916521	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
38	rs181698936	chr12:57916542-57916543	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
39	rs185324724	chr12:57916556-57916557	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	mRNA abundance
40	rs536552704	chr12:57916614-57916615	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
41	rs555342814	chr12:57916697-57916698	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
42	rs372432202	chr12:57916841-57916842	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
43	rs375674363	chr12:57916845-57916846	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
44	rs576802574	chr12:57916895-57916896	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
45	rs554245578	chr12:57916946-57916947	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
46	rs371502816	chr12:57916959-57916960	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
47	rs12822686	chr12:57916971-57916972	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
48	rs138405775	chr12:57916988-57916989	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
49	rs375297979	chr12:57917006-57917007	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
50	rs576879406	chr12:57917138-57917139	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
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
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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57912000-57917600	Active TSS	Psoas Muscle	Psoas
2	chr12:57912400-57918600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:57912800-57915800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:57913400-57915400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:57913400-57915600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:57913600-57915400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr12:57913800-57917400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:57914000-57915400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:57914200-57915400	Active TSS	HepG2	liver
10	chr12:57914200-57916000	Weak transcription	Small Intestine	intestine
11	chr12:57914400-57915800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:57914400-57916000	Weak transcription	Gastric	stomach
13	chr12:57914400-57916000	Weak transcription	Ovary	ovary
14	chr12:57914600-57915400	Enhancers	NHDF-Ad	bronchial
15	chr12:57914600-57915600	Enhancers	NHLF	lung
16	chr12:57914600-57916200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:57914600-57916200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr12:57914600-57916200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:57914600-57916400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr12:57914600-57916400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr12:57914600-57916400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:57914600-57916400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:57914600-57916400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr12:57914800-57915400	Flanking Active TSS	Fetal Lung	lung
25	chr12:57914800-57915400	Enhancers	HMEC	breast
26	chr12:57914800-57915600	Enhancers	Stomach Mucosa	stomach
27	chr12:57914800-57916000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:57914800-57916200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:57914800-57916200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:57914800-57916200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr12:57914800-57916200	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr12:57914800-57916200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr12:57914800-57916200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr12:57914800-57916200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr12:57914800-57916200	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr12:57914800-57916200	Flanking Active TSS	Fetal Heart	heart
37	chr12:57914800-57916200	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr12:57914800-57916200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:57914800-57916200	Flanking Active TSS	K562	blood
40	chr12:57914800-57916400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr12:57914800-57916400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr12:57914800-57916400	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr12:57914800-57916400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr12:57914800-57916400	Flanking Active TSS	Dnd41	blood
45	chr12:57914800-57916400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr12:57915000-57915400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:57915000-57915400	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:57915000-57915400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr12:57915000-57915400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr12:57915000-57915400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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