Variant report

Variant	rs1358594
Chromosome Location	chr4:74555477-74555478
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74555081..74557547-chr4:74559945..74561455,2	K562	blood:
2	chr4:74552740..74555575-chr4:74963149..74964883,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10025373	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10029200	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10938089	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10938091	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11722921	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11938646	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1247605	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1247607	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1247608	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1247611	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1247620	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1247633	0.99[ASN][1000 genomes]
rs1247634	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1247635	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247639	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1247687	0.97[ASN][1000 genomes]
rs1247689	0.98[ASN][1000 genomes]
rs12508451	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1261935	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12642878	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12643076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12643148	0.97[ASN][1000 genomes]
rs12646031	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12649614	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1269764	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1269766	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1406498	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1528910	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1528912	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1528913	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1729722	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1745246	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1951704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2091587	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2141467	0.97[ASN][1000 genomes]
rs2141468	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2178291	0.97[ASN][1000 genomes]
rs2367273	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2886918	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4127802	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4259030	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4568212	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4637366	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4694633	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56785010	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61101665	0.97[ASN][1000 genomes]
rs6446950	0.90[ASN][1000 genomes]
rs6446951	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6446953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6446954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6818711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6836038	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6857472	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs720702	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72865497	0.97[ASN][1000 genomes]
rs72865502	0.97[ASN][1000 genomes]
rs7655660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7656501	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7656608	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7657356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7657358	0.97[ASN][1000 genomes]
rs7660448	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7660923	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7665606	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7678280	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7678307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7681924	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7681932	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7682745	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7683759	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7689702	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs942051	0.97[ASN][1000 genomes]
rs9991585	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv3467192	chr4:74555130-74557160	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3467193	chr4:74555130-74557160	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv15926	chr4:74555362-74556762	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv519932	chr4:74555477-74556038	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74546000-74555600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:74550200-74563600	Weak transcription	HMEC	breast
3	chr4:74550800-74555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:74550800-74555600	Weak transcription	A549	lung
5	chr4:74551000-74555800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:74553400-74555600	Weak transcription	Hela-S3	cervix
7	chr4:74553400-74558200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:74554800-74555600	Weak transcription	Osteobl	bone
9	chr4:74555000-74556800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:74555200-74556800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:74555400-74556400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr4:74555400-74556400	Enhancers	NHDF-Ad	bronchial
13	chr4:74555400-74556800	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links