Variant report

Variant	rs11252656
Chromosome Location	chr10:4721758-4721759
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr10:4721502-4721805	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFYB	chr10:4721503-4721817	K562	blood:	n/a	chr10:4721663-4721678
3	NFYB	chr10:4721564-4721794	Hela-S3	cervix:	n/a	chr10:4721663-4721678

No.	Distal block	Cell Line	Cell type
1	chr10:4721349..4725146-chr10:4726234..4729626,7	MCF-7	breast:
2	chr10:4720656..4723151-chr10:4723485..4725231,3	MCF-7	breast:
3	chr10:4720784..4722788-chr10:4723962..4726842,2	MCF-7	breast:
4	chr10:4704243..4706913-chr10:4720436..4722129,2	MCF-7	breast:

Variant related genes	Relation type
LINC00704	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11252657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11252658	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11252660	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11252662	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12572602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1498272	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1498273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17133411	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4242771	0.82[ASN][1000 genomes]
rs4992184	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7080649	0.80[ASN][1000 genomes]
rs924288	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4716400-4726600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:4717800-4727000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:4719800-4721800	Enhancers	Ovary	ovary
4	chr10:4720000-4721800	Enhancers	Psoas Muscle	Psoas
5	chr10:4720400-4721800	Enhancers	Fetal Intestine Large	intestine
6	chr10:4720400-4722000	Enhancers	Fetal Intestine Small	intestine
7	chr10:4720600-4721800	Enhancers	Pancreas	Pancrea
8	chr10:4720600-4721800	Enhancers	NH-A	brain
9	chr10:4720600-4722600	Enhancers	Stomach Mucosa	stomach
10	chr10:4720800-4721800	Enhancers	HMEC	breast
11	chr10:4720800-4722800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:4721000-4721800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:4721000-4721800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr10:4721000-4725800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:4721000-4727800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:4721200-4721800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr10:4721200-4721800	Enhancers	Duodenum Mucosa	Duodenum
18	chr10:4721200-4722000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr10:4721200-4725800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:4721200-4728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:4721200-4729000	Weak transcription	NHDF-Ad	bronchial
22	chr10:4721200-4733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:4721400-4722600	Enhancers	A549	lung
24	chr10:4721400-4726000	Weak transcription	NHEK	skin
25	chr10:4721400-4726000	Weak transcription	Osteobl	bone
26	chr10:4721400-4727000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:4721600-4727200	Weak transcription	HUVEC	blood vessel

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