Variant report

Variant	rs566795747
Chromosome Location	chr12:43031067-43031068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:43030733-43031072	Gliobla	brain:	n/a	n/a
2	POLR2A	chr12:43030692-43031067	MCF-7	breast:	n/a	n/a
3	POLR2A	chr12:43031019-43031088	MCF-7	breast:	n/a	n/a
4	HEY1	chr12:43030843-43031068	K562	blood:	n/a	n/a
5	POLR2A	chr12:43030847-43031069	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:43031029-43031079	SKMC	muscle:	n/a
2	chr12:43031029-43031079	GM12891	blood:	n/a
3	chr12:43031029-43031079	HCPEpiC	choroid plexus:	n/a
4	chr12:43031029-43031079	NT2-D1	testis:	n/a
5	chr12:43031029-43031079	HAEpiC	amniotic membrane:	n/a
6	chr12:43031029-43031079	SK-N-SH	brain:	n/a
7	chr12:43031029-43031079	HRCEpiC	kidney:	n/a
8	chr12:43031029-43031079	BE2_C	brain:	n/a
9	chr12:43031029-43031079	ECC-1	luminal epithelium:	n/a
10	chr12:43031029-43031079	PrEC	prostate:	n/a
11	chr12:43031029-43031079	AG04449	skin:	fetal
12	chr12:43031029-43031079	SAEC	small airway:	n/a
13	chr12:43031029-43031079	U87	brain:	n/a
14	chr12:43031029-43031079	HRE	kidney:	n/a
15	chr12:43031029-43031079	T-47D	breast:	n/a
16	chr12:43031029-43031079	NHDF-neo	bronchial:	n/a
17	chr12:43031029-43031079	NH-A	brain:	n/a
18	chr12:43031029-43031079	MCF-7	breast:	n/a
19	chr12:43031029-43031079	ovcar-3	ovarian:	n/a
20	chr12:43031029-43031079	BJ	skin:	n/a
21	chr12:43031029-43031079	NHBE	bronchial:	n/a
22	chr12:43031029-43031079	HUVEC	blood vessel:	n/a
23	chr12:43031029-43031079	CMK	blood:	n/a
24	chr12:43031029-43031079	HEK293	kidney:	embryo
25	chr12:43031029-43031079	SK-N-MC	brain:	n/a
26	chr12:43031029-43031079	SK-N-SH_RA	brain:	n/a
27	chr12:43031029-43031079	Jurkat	blood:	n/a
28	chr12:43031029-43031079	LNCaP	prostate:	n/a
29	chr12:43031029-43031079	GM12878	blood:	n/a
30	chr12:43031029-43031079	HRPEpiC	eye:	n/a
31	chr12:43031029-43031079	Hepatocyte	liver:	n/a
32	chr12:43031029-43031079	HepG2	liver:	n/a
33	chr12:43031029-43031079	HCM	heart:	n/a
34	chr12:43031029-43031079	RPTEC	kidney:	n/a
35	chr12:43031029-43031079	HNPCEpiC	eye:	n/a
36	chr12:43031029-43031079	AG04450	lung:	fetal
37	chr12:43031029-43031079	HEEpiC	esophagus:	n/a
38	chr12:43031029-43031079	AG09309	skin:	n/a
39	chr12:43031029-43031079	HMEC	breast:	n/a
40	chr12:43031029-43031079	PANC-1	pancreas:	n/a
41	chr12:43031029-43031079	HCF	heart:	n/a
42	chr12:43031029-43031079	IMR90	lung:	fetal
43	chr12:43031029-43031079	ProgFib	skin:	n/a
44	chr12:43031029-43031079	Hela-S3	cervix:	n/a
45	chr12:43031029-43031079	AoSMC	blood vessel:	n/a
46	chr12:43031029-43031079	Caco-2	colon:	n/a
47	chr12:43031029-43031079	GM19239	blood:	n/a
48	chr12:43031029-43031079	GM12892	blood:	n/a
49	chr12:43031029-43031079	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:43031029-43031079	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:43020347..43023127-chr12:43029388..43031746,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257405	TF binding region
ENSG00000257405	CpG island
ENSG00000257687	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv558719	chr12:43020633-43031988	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv558720	chr12:43020633-43037679	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv983315	chr12:43030595-43031580	Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43030600-43035000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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