Variant report

Variant	rs866637
Chromosome Location	chr1:223597253-223597254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223595218..223598867-chr1:223599008..223602408,5	K562	blood:
2	chr1:223594003..223597385-chr1:223616098..223619072,3	MCF-7	breast:
3	chr1:223596035..223598867-chr1:223600908..223603274,2	K562	blood:
4	chr1:223306620..223308748-chr1:223595185..223597717,2	MCF-7	breast:
5	chr1:223589830..223593487-chr1:223595187..223598316,3	K562	blood:

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10907375	0.80[CHB][hapmap]
rs11261269	0.86[EUR][1000 genomes]
rs11579995	0.90[CHB][hapmap]
rs12064476	0.90[CHB][hapmap]
rs12074782	0.90[CHB][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap]
rs12082133	0.90[CHB][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap]
rs12087387	0.86[EUR][1000 genomes]
rs12094897	0.80[CHB][hapmap];0.87[GIH][hapmap]
rs12405882	0.82[EUR][1000 genomes]
rs1400964	0.80[CHB][hapmap];0.87[GIH][hapmap]
rs1619161	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1713213	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1772288	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1772289	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1819706	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1914612	0.87[GIH][hapmap]
rs2298063	0.90[CHB][hapmap]
rs2353204	0.86[EUR][1000 genomes]
rs2678369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2678370	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[GIH][hapmap];0.82[MKK][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34070817	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35345617	0.80[CHB][hapmap];0.87[GIH][hapmap]
rs35727959	0.80[CHB][hapmap];0.87[GIH][hapmap]
rs35996176	0.80[CHB][hapmap]
rs59584296	0.86[EUR][1000 genomes]
rs6679661	0.90[CHB][hapmap]
rs6682552	0.80[CHB][hapmap]
rs6689850	0.90[CHB][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap]
rs6701453	0.88[CHB][hapmap]
rs825136	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs825137	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs825141	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs825142	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs825143	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs825144	0.91[ASN][1000 genomes]
rs825145	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs825146	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs825148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223592600-223597400	Weak transcription	Right Ventricle	heart
2	chr1:223594600-223597800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:223594800-223600600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:223595200-223599000	Weak transcription	Esophagus	oesophagus
5	chr1:223595200-223609200	Weak transcription	Right Atrium	heart
6	chr1:223596200-223597800	Enhancers	HSMMtube	muscle
7	chr1:223596400-223597400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:223596400-223598400	Enhancers	HSMM	muscle
9	chr1:223596400-223599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:223597000-223597400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:223597000-223597400	Enhancers	NHLF	lung
12	chr1:223597000-223597600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:223597000-223597600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:223597000-223597600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:223597000-223597600	Enhancers	Fetal Muscle Leg	muscle
16	chr1:223597000-223597600	Enhancers	Ovary	ovary
17	chr1:223597000-223597600	Enhancers	HMEC	breast
18	chr1:223597000-223597600	Enhancers	NHEK	skin
19	chr1:223597000-223597800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:223597000-223597800	Enhancers	Left Ventricle	heart
21	chr1:223597000-223598200	Enhancers	NHDF-Ad	bronchial
22	chr1:223597000-223598400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:223597000-223599200	Enhancers	Osteobl	bone
24	chr1:223597000-223599600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:223597200-223597400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:223597200-223597800	Enhancers	Fetal Heart	heart
27	chr1:223597200-223598400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:223597200-223602600	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links