Variant report

Variant	nsv826385
Chromosome Location	chr12:58129908-58133427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:410)
CpG islands
(count:794)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:58132662-58133069	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr12:58129579-58129960	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr12:58131796-58131814	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:58129524-58130011	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr12:58130883-58131024	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr12:58129418-58130018	A549	lung:	n/a	chr12:58129677-58129686 chr12:58130004-58130013
7	BHLHE40	chr12:58129680-58130524	K562	blood:	n/a	chr12:58129921-58129937 chr12:58129924-58129940
8	CBX3	chr12:58129610-58130695	K562	blood:	n/a	n/a
9	CBX3	chr12:58130941-58131253	K562	blood:	n/a	n/a
10	CCNT2	chr12:58129790-58130111	K562	blood:	n/a	n/a
11	CEBPB	chr12:58130159-58130209	K562	blood:	n/a	n/a
12	CHD1	chr12:58131840-58131963	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr12:58132621-58133184	IMR90	lung:	n/a	n/a
14	CHD2	chr12:58132699-58133135	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr12:58129779-58130017	K562	blood:	n/a	n/a
16	CHD2	chr12:58129777-58129966	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr12:58133339-58133346	K562	blood:	n/a	n/a
18	CREB1	chr12:58132635-58133007	A549	lung:	n/a	n/a
19	CREB1	chr12:58130844-58131134	A549	lung:	n/a	n/a
20	CREB1	chr12:58131670-58131967	A549	lung:	n/a	n/a
21	CREB1	chr12:58129708-58130089	A549	lung:	n/a	n/a
22	CREB1	chr12:58132744-58132924	A549	lung:	n/a	n/a
23	CTBP2	chr12:58129316-58131871	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr12:58131320-58131470	A549	lung:	n/a	n/a
25	CTCF	chr12:58131720-58131870	SAEC	small airway:	n/a	n/a
26	CTCF	chr12:58129674-58129973	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr12:58129780-58129930	AG04450	lung:	n/a	n/a
28	CTCF	chr12:58131678-58131876	HepG2	liver:	n/a	n/a
29	CTCF	chr12:58131320-58131470	HCM	heart:	n/a	n/a
30	CTCF	chr12:58129716-58129965	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:58131600-58131750	HVMF	connective:	n/a	n/a
32	CTCF	chr12:58131738-58131891	MCF-7	breast:	n/a	n/a
33	CTCF	chr12:58131720-58131870	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr12:58131700-58131850	HAc	cerebellar:	n/a	n/a
35	CTCF	chr12:58131740-58131890	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr12:58131760-58131910	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr12:58131467-58131519	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:58131720-58131870	HCM	heart:	n/a	n/a
39	CTCF	chr12:58131760-58131910	AG04450	lung:	n/a	n/a
40	CTCF	chr12:58131796-58131838	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr12:58131740-58131890	AG04450	lung:	n/a	n/a
42	CTCF	chr12:58129760-58129910	Caco-2	colon:	n/a	n/a
43	CTCF	chr12:58131820-58131970	HCM	heart:	n/a	n/a
44	CTCF	chr12:58129736-58129957	T-47D	breast:	n/a	n/a
45	CTCF	chr12:58131686-58131945	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr12:58129650-58129986	HepG2	liver:	n/a	n/a
47	CTCF	chr12:58131740-58131890	AG04449	skin:	n/a	n/a
48	CTCF	chr12:58131720-58131870	HVMF	connective:	n/a	n/a
49	CTCF	chr12:58131740-58131890	SAEC	small airway:	n/a	n/a
50	CTCF	chr12:58131073-58132109	SK-N-SH	brain:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58130183-58130233	NB4	blood:	n/a
2	chr12:58130183-58130233	NB4	blood:	n/a
3	chr12:58131681-58131731	GM12878	blood:	n/a
4	chr12:58130183-58130233	HepG2	liver:	n/a
5	chr12:58130410-58130460	GM12878	blood:	n/a
6	chr12:58132733-58132783	A549	lung:	n/a
7	chr12:58131681-58131731	ECC-1	luminal epithelium:	n/a
8	chr12:58132733-58132783	NB4	blood:	n/a
9	chr12:58131681-58131731	MCF-7	breast:	n/a
10	chr12:58133411-58133461	NHDF-neo	bronchial:	n/a
11	chr12:58130410-58130460	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:58130410-58130460	AG09309	skin:	n/a
13	chr12:58133008-58133058	H1-hESC	embryonic stem cell:	embryo
14	chr12:58132558-58132608	T-47D	breast:	n/a
15	chr12:58132093-58132143	NHBE	bronchial:	n/a
16	chr12:58132558-58132608	HRE	kidney:	n/a
17	chr12:58130183-58130233	AG04450	lung:	fetal
18	chr12:58131768-58131818	HCM	heart:	n/a
19	chr12:58132558-58132608	SK-N-SH	brain:	n/a
20	chr12:58130183-58130233	H1-hESC	embryonic stem cell:	embryo
21	chr12:58131345-58131395	NT2-D1	testis:	n/a
22	chr12:58131345-58131395	HCF	heart:	n/a
23	chr12:58130154-58130204	Hepatocyte	liver:	n/a
24	chr12:58132093-58132143	HCPEpiC	choroid plexus:	n/a
25	chr12:58132105-58132155	AG04450	lung:	fetal
26	chr12:58132105-58132155	U87	brain:	n/a
27	chr12:58132105-58132155	PFSK-1	brain:	n/a
28	chr12:58132105-58132155	GM12878	blood:	n/a
29	chr12:58132558-58132608	ECC-1	luminal epithelium:	n/a
30	chr12:58133411-58133461	BE2_C	brain:	n/a
31	chr12:58131011-58131061	MCF10A-Er-Src	breast:	n/a
32	chr12:58130183-58130233	GM12878	blood:	n/a
33	chr12:58131011-58131061	HRE	kidney:	n/a
34	chr12:58133411-58133461	HNPCEpiC	eye:	n/a
35	chr12:58131681-58131731	HRCEpiC	kidney:	n/a
36	chr12:58132558-58132608	MCF10A-Er-Src	breast:	n/a
37	chr12:58132105-58132155	GM19239	blood:	n/a
38	chr12:58131345-58131395	MCF10A-Er-Src	breast:	n/a
39	chr12:58132733-58132783	HepG2	liver:	n/a
40	chr12:58133411-58133461	Hepatocyte	liver:	n/a
41	chr12:58131345-58131395	HL-60	blood:	n/a
42	chr12:58131681-58131731	HCF	heart:	n/a
43	chr12:58131345-58131395	Hela-S3	cervix:	n/a
44	chr12:58133008-58133058	SAEC	small airway:	n/a
45	chr12:58130410-58130460	HNPCEpiC	eye:	n/a
46	chr12:58131681-58131731	HCM	heart:	n/a
47	chr12:58131011-58131061	GM06990	blood:	n/a
48	chr12:58131345-58131395	A549	lung:	n/a
49	chr12:58132093-58132143	ovcar-3	ovarian:	n/a
50	chr12:58132558-58132608	IMR90	lung:	fetal

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58117957..58120676-chr12:58129042..58131410,3	K562	blood:
2	chr12:58014906..58016961-chr12:58128240..58131170,2	K562	blood:
3	chr12:57914398..57918240-chr12:58127433..58131340,5	K562	blood:
4	chr12:58086918..58087453-chr12:58130392..58131290,2	K562	blood:
5	chr12:57984280..57986133-chr12:58130711..58132725,2	K562	blood:
6	chr12:57951614..57954558-chr12:58128271..58131020,2	K562	blood:
7	chr12:58119523..58120051-chr12:58132094..58132767,2	MCF-7	breast:
8	chr12:58014473..58015189-chr12:58129760..58130291,2	MCF-7	breast:
9	chr12:57976568..57977825-chr12:58129195..58130317,11	K562	blood:
10	chr12:57911286..57913384-chr12:58133067..58135116,2	K562	blood:
11	chr12:58129311..58130058-chr12:58298904..58299889,3	MCF-7	breast:
12	chr12:58133058..58135797-chr12:58239105..58241667,3	MCF-7	breast:
13	chr12:57985447..57987407-chr12:58128480..58131325,2	MCF-7	breast:
14	chr12:57914271..57916098-chr12:58131440..58134732,4	K562	blood:
15	chr12:57916381..57918711-chr12:58131475..58134282,2	MCF-7	breast:
16	chr12:57915857..57917548-chr12:58128281..58130652,2	MCF-7	breast:
17	chr12:58016846..58018792-chr12:58129433..58131831,2	K562	blood:
18	chr12:57852621..57854513-chr12:58130296..58131944,2	K562	blood:
19	chr12:58112503..58116669-chr12:58128862..58132734,4	K562	blood:
20	chr12:58121545..58122179-chr12:58130671..58131607,2	MCF-7	breast:
21	chr12:58086094..58088041-chr12:58129129..58130888,2	K562	blood:
22	chr12:57909973..57915898-chr12:58127755..58134567,15	K562	blood:
23	chr12:57913785..57915861-chr12:58131130..58132834,2	MCF-7	breast:
24	chr12:57934862..57936382-chr12:58129218..58130903,2	K562	blood:
25	chr12:57856220..57856940-chr12:58129447..58130061,2	MCF-7	breast:
26	chr12:58119624..58120427-chr12:58131646..58132182,3	MCF-7	breast:
27	chr12:57976837..57977750-chr12:58129328..58130470,7	MCF-7	breast:
28	chr12:57934862..57937510-chr12:58129218..58130977,3	K562	blood:
29	chr12:58086411..58090647-chr12:58128680..58131579,3	MCF-7	breast:
30	chr12:57976905..57977643-chr12:58129262..58129943,2	MCF-7	breast:

No data

Variant related genes	Relation type
TSPAN31	TF binding region
AGAP2	TF binding region
TSPAN31	CpG island
AGAP2	CpG island
ENSG00000175215	chromatin interactions
ENSG00000111087	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000257499	chromatin interactions
ENSG00000166908	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000175203	chromatin interactions
ENSG00000255737	chromatin interactions
ENSG00000135506	chromatin interactions
ENSG00000257342	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000135502	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552671845	chr12:58129953-58129954	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs568376170	chr12:58130134-58130135	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs535400602	chr12:58130141-58130142	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs557192833	chr12:58130168-58130169	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs575106833	chr12:58130208-58130209	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs75185522	chr12:58130223-58130224	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs112843362	chr12:58130242-58130243	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs11830475	chr12:58130248-58130249	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs576906980	chr12:58130281-58130282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs576678181	chr12:58130325-58130326	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs75903270	chr12:58130366-58130367	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs559505224	chr12:58130369-58130370	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs530080128	chr12:58130406-58130407	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs34482618	chr12:58130450-58130451	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs2650057	chr12:58130496-58130497	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs2518686	chr12:58130502-58130503	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs372045692	chr12:58130513-58130514	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs201073052	chr12:58130560-58130561	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs563929086	chr12:58130592-58130593	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs373967809	chr12:58130671-58130672	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs184606065	chr12:58130681-58130682	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs570588953	chr12:58130694-58130695	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs528158624	chr12:58130708-58130709	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs74094227	chr12:58130731-58130732	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567985985	chr12:58130736-58130737	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs531953413	chr12:58130751-58130752	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs545740360	chr12:58130825-58130826	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs550503625	chr12:58130850-58130851	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs559017723	chr12:58130851-58130852	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs568808997	chr12:58130871-58130872	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs138797704	chr12:58130872-58130873	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs557516597	chr12:58130878-58130879	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs572669109	chr12:58130884-58130885	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs115316444	chr12:58130889-58130890	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs140327485	chr12:58130890-58130891	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs574746946	chr12:58130941-58130942	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs80333438	chr12:58131013-58131014	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs12829991	chr12:58131014-58131015	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs542194963	chr12:58131052-58131053	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs201194295	chr12:58131069-58131070	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs202224105	chr12:58131119-58131120	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs200168567	chr12:58131136-58131137	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs554516694	chr12:58131156-58131157	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs200408465	chr12:58131182-58131183	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs546452220	chr12:58131229-58131230	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs201146586	chr12:58131251-58131252	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs528656185	chr12:58131253-58131254	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs375484343	chr12:58131272-58131273	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs546380936	chr12:58131296-58131297	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs113244859	chr12:58131303-58131304	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
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
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
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58118400-58132000	Strong transcription	Primary T cells from cord blood	blood
2	chr12:58119200-58132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:58119600-58130400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:58119600-58130400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:58119600-58131200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:58119600-58131400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:58119600-58132400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:58119600-58132800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:58119600-58133000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:58120000-58131400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr12:58120200-58130200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:58120400-58131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:58120400-58132400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:58121400-58132800	Strong transcription	Thymus	Thymus
15	chr12:58121600-58130200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:58121800-58130200	Weak transcription	Gastric	stomach
17	chr12:58121800-58132400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:58123000-58131400	Strong transcription	Fetal Thymus	thymus
19	chr12:58127800-58133600	Weak transcription	GM12878-XiMat	blood
20	chr12:58128000-58131600	Bivalent Enhancer	Placenta	Placenta
21	chr12:58128400-58130200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:58128600-58130400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:58128800-58130000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:58129000-58130000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:58129000-58130400	Enhancers	Liver	Liver
26	chr12:58129000-58131600	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr12:58129000-58131600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:58129000-58131600	Bivalent Enhancer	Fetal Brain Male	brain
29	chr12:58129000-58131800	Bivalent Enhancer	Fetal Stomach	stomach
30	chr12:58129000-58132200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:58129000-58132400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr12:58129000-58132800	Weak transcription	Dnd41	blood
33	chr12:58129200-58130200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr12:58129200-58130600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:58129200-58131400	Bivalent Enhancer	Brain Substantia Nigra	brain
36	chr12:58129200-58131800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr12:58129200-58132600	Weak transcription	Primary B cells from cord blood	blood
38	chr12:58129200-58132600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:58129400-58130000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
40	chr12:58129400-58130000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr12:58129400-58130000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr12:58129400-58130200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr12:58129400-58130200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:58129400-58130400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr12:58129400-58130600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:58129400-58130600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr12:58129400-58130800	Bivalent Enhancer	Psoas Muscle	Psoas
48	chr12:58129400-58131000	Enhancers	Lung	lung
49	chr12:58129400-58131200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
50	chr12:58129400-58131200	Bivalent Enhancer	Fetal Heart	heart

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