Variant report

Variant	rs10765657
Chromosome Location	chr11:93927060-93927061
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	NFIC	chr11:93926278-93927093	SK-N-SH	brain:	n/a	n/a
2	FOS	chr11:93926486-93927141	MCF10A-Er-Src	breast:	n/a	chr11:93926704-93926711 chr11:93926702-93926711 chr11:93926702-93926712 chr11:93926701-93926713 chr11:93926623-93926634 chr11:93926702-93926712 chr11:93926699-93926710 chr11:93926703-93926712
3	EP300	chr11:93926310-93927069	SK-N-SH	brain:	n/a	chr11:93926946-93926960 chr11:93926702-93926711

Variant related genes	Relation type
ENSG00000256745	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1014499	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10458852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10765658	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10765660	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10831169	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10831173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10831174	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10831175	0.82[AMR][1000 genomes]
rs10831176	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10831184	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11020678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11020679	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11020703	0.91[EUR][1000 genomes]
rs11020719	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12362988	0.82[AMR][1000 genomes]
rs12366039	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12792677	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12808853	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1361929	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1541301	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16920039	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs1789652	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792632	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1833063	0.82[AMR][1000 genomes]
rs1857680	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1944436	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2000956	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2156627	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3020004	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3020016	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4597032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753131	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4753132	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4753548	0.82[AMR][1000 genomes]
rs4753569	0.85[AMR][1000 genomes]
rs480710	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs526036	0.80[AMR][1000 genomes]
rs561807	0.80[AMR][1000 genomes]
rs581771	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs613234	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs655358	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs657896	0.80[AMR][1000 genomes]
rs689315	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7118270	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7927338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7927496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7936241	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs871244	0.82[AMR][1000 genomes]

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	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1038294	chr11:93918837-93982605	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10765657	RP11-680H20.2	cis	Artery Tibial	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93913600-93929400	Weak transcription	Gastric	stomach
2	chr11:93915600-93929400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:93917600-93934200	Weak transcription	Fetal Intestine Small	intestine
4	chr11:93920200-93928000	Weak transcription	HSMMtube	muscle
5	chr11:93920400-93929400	Weak transcription	Pancreas	Pancrea
6	chr11:93920400-93933000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:93920400-93937800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:93920600-93927800	Weak transcription	Aorta	Aorta
9	chr11:93925600-93927200	Enhancers	A549	lung
10	chr11:93925600-93927200	Enhancers	NHLF	lung
11	chr11:93925600-93927400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:93925800-93928600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:93926000-93927400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:93926200-93927400	Enhancers	HMEC	breast
15	chr11:93926600-93929600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:93926800-93932200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:93926800-93938800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:93927000-93927400	Weak transcription	NH-A	brain
19	chr11:93927000-93929400	Weak transcription	NHDF-Ad	bronchial

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