Variant report

Variant	rs11975856
Chromosome Location	chr7:12611632-12611633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr7:12609858-12611660	NT2-D1	testis:	n/a	n/a
2	CTCF	chr7:12611500-12611650	AG04450	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:12611607-12611657	AG09319	gingival:	n/a
2	chr7:12611607-12611657	AoSMC	blood vessel:	n/a
3	chr7:12611607-12611657	K562	blood:	n/a
4	chr7:12611607-12611657	PANC-1	pancreas:	n/a
5	chr7:12611607-12611657	NB4	blood:	n/a
6	chr7:12611607-12611657	GM19239	blood:	n/a
7	chr7:12611607-12611657	AG04450	lung:	fetal
8	chr7:12611607-12611657	NT2-D1	testis:	n/a
9	chr7:12611607-12611657	HNPCEpiC	eye:	n/a
10	chr7:12611607-12611657	SK-N-MC	brain:	n/a
11	chr7:12611607-12611657	HAEpiC	amniotic membrane:	n/a
12	chr7:12611607-12611657	Hela-S3	cervix:	n/a
13	chr7:12611607-12611657	NHDF-neo	bronchial:	n/a
14	chr7:12611607-12611657	IMR90	lung:	fetal
15	chr7:12611607-12611657	HRE	kidney:	n/a
16	chr7:12611607-12611657	Hepatocyte	liver:	n/a
17	chr7:12611607-12611657	AG04449	skin:	fetal
18	chr7:12611607-12611657	PrEC	prostate:	n/a
19	chr7:12611607-12611657	MCF-7	breast:	n/a
20	chr7:12611607-12611657	H1-hESC	embryonic stem cell:	embryo
21	chr7:12611607-12611657	BE2_C	brain:	n/a
22	chr7:12611607-12611657	ProgFib	skin:	n/a
23	chr7:12611607-12611657	PFSK-1	brain:	n/a
24	chr7:12611607-12611657	U87	brain:	n/a
25	chr7:12611607-12611657	HCT-116	colon:	n/a
26	chr7:12611607-12611657	SK-N-SH_RA	brain:	n/a
27	chr7:12611607-12611657	A549	lung:	n/a
28	chr7:12611607-12611657	GM06990	blood:	n/a
29	chr7:12611607-12611657	HRPEpiC	eye:	n/a
30	chr7:12611607-12611657	GM12878	blood:	n/a
31	chr7:12611607-12611657	ovcar-3	ovarian:	n/a
32	chr7:12611607-12611657	Jurkat	blood:	n/a
33	chr7:12611607-12611657	GM12892	blood:	n/a
34	chr7:12611607-12611657	HIPEpiC	eye:	n/a
35	chr7:12611607-12611657	HCM	heart:	n/a
36	chr7:12611607-12611657	T-47D	breast:	n/a
37	chr7:12611607-12611657	HUVEC	blood vessel:	n/a
38	chr7:12611607-12611657	CMK	blood:	n/a
39	chr7:12611607-12611657	ECC-1	luminal epithelium:	n/a
40	chr7:12611607-12611657	BJ	skin:	n/a
41	chr7:12611607-12611657	HMEC	breast:	n/a
42	chr7:12611607-12611657	HepG2	liver:	n/a
43	chr7:12611607-12611657	NHBE	bronchial:	n/a
44	chr7:12611607-12611657	HRCEpiC	kidney:	n/a
45	chr7:12611607-12611657	AG09309	skin:	n/a
46	chr7:12611607-12611657	LNCaP	prostate:	n/a
47	chr7:12611607-12611657	GM12891	blood:	n/a
48	chr7:12611607-12611657	HEEpiC	esophagus:	n/a
49	chr7:12611607-12611657	HEK293	kidney:	embryo
50	chr7:12611607-12611657	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
ENSG00000225606	TF binding region
ENSG00000225606	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17166169	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17166188	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17166189	1.00[MEX][hapmap]
rs3087643	1.00[ASN][1000 genomes]
rs3087766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs59570234	0.81[ASN][1000 genomes]
rs60516001	0.88[ASN][1000 genomes]
rs6946787	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73060605	0.81[ASN][1000 genomes]
rs73680866	1.00[ASN][1000 genomes]
rs7781602	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7808884	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv528031	chr7:12536336-12618764	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1025397	chr7:12543161-12612059	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1025006	chr7:12543161-12618924	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1027831	chr7:12543161-12619740	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv470066	chr7:12543794-12618764	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1033478	chr7:12547121-12618924	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv464379	chr7:12572742-12618764	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv606231	chr7:12572742-12618764	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1018053	chr7:12580554-12632996	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1020242	chr7:12605593-12641202	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12609600-12612000	Active TSS	Brain Anterior Caudate	brain
2	chr7:12610200-12612000	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr7:12610200-12612600	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr7:12610400-12613400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr7:12610800-12611800	Active TSS	Colonic Mucosa	Colon
6	chr7:12611000-12611800	Active TSS	Stomach Mucosa	stomach
7	chr7:12611000-12612800	Weak transcription	K562	blood
8	chr7:12611000-12613200	Active TSS	Duodenum Mucosa	Duodenum
9	chr7:12611200-12612800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:12611200-12613200	Enhancers	Adipose Nuclei	Adipose
11	chr7:12611400-12611800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:12611400-12611800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:12611600-12612200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:12611600-12613600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:12611600-12620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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