Variant report

Variant	rs2091587
Chromosome Location	chr4:74560626-74560627
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74559978..74562265-chr4:74562768..74565190,2	K562	blood:
2	chr4:74549171..74551747-chr4:74558717..74561075,2	K562	blood:
3	chr4:74555081..74557547-chr4:74559945..74561455,2	K562	blood:
4	chr4:74558088..74561478-chr4:74562636..74566265,4	K562	blood:
5	chr4:74558633..74562298-chr4:74570528..74572669,3	MCF-7	breast:
6	chr4:74558541..74560997-chr4:74583803..74585905,2	K562	blood:
7	chr4:74549171..74550969-chr4:74559575..74562133,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10025373	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10029200	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10938089	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10938091	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11722921	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938646	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1247605	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247607	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247608	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247611	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247620	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247633	1.00[ASN][1000 genomes]
rs1247634	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247635	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247639	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247687	0.98[ASN][1000 genomes]
rs1247689	0.99[ASN][1000 genomes]
rs12508451	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1261935	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12642878	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12643076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12643148	0.98[ASN][1000 genomes]
rs12646031	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12649614	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1269764	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1269766	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1358594	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1406498	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528910	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528912	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528913	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1729722	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1745246	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1951704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2141467	0.98[ASN][1000 genomes]
rs2141468	1.00[ASN][1000 genomes]
rs2178291	0.98[ASN][1000 genomes]
rs2367273	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886918	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3796679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4127802	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4259030	0.98[ASN][1000 genomes]
rs4568212	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4637366	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4694633	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56785010	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61101665	0.98[ASN][1000 genomes]
rs6446950	0.91[ASN][1000 genomes]
rs6446951	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6446953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6446954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6818711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6836038	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6857472	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720702	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72865497	0.98[ASN][1000 genomes]
rs72865502	0.98[ASN][1000 genomes]
rs7655660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7656501	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7656608	1.00[ASN][1000 genomes]
rs7657356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7657358	0.98[ASN][1000 genomes]
rs7660448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7660923	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7665606	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7678280	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7678307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7681924	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7681932	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7682745	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7683759	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7689702	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs942051	0.98[ASN][1000 genomes]
rs9991585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv437396	chr4:74552157-74561560	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74550200-74563600	Weak transcription	HMEC	breast
2	chr4:74556400-74563800	Weak transcription	NHDF-Ad	bronchial
3	chr4:74556400-74563800	Weak transcription	Osteobl	bone
4	chr4:74558200-74563400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:74558400-74563600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:74558400-74563600	Weak transcription	HUVEC	blood vessel
7	chr4:74558400-74563800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:74558600-74563600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:74558600-74563600	Weak transcription	NHEK	skin
10	chr4:74558600-74567200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:74558800-74563600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:74558800-74563800	Weak transcription	Hela-S3	cervix
13	chr4:74560200-74563800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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