Variant report

Variant	rs1247605
Chromosome Location	chr4:74550993-74550994
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74549171..74551747-chr4:74558717..74561075,2	K562	blood:
2	chr4:74542484..74546380-chr4:74548286..74552440,3	K562	blood:
3	chr4:74548585..74551184-chr4:74569612..74572509,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10025373	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10029200	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10938089	0.98[ASN][1000 genomes]
rs10938091	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11722921	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11938646	0.98[ASN][1000 genomes]
rs1247607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247608	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247611	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247633	0.98[ASN][1000 genomes]
rs1247634	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247635	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1247639	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247687	1.00[ASN][1000 genomes]
rs1247689	0.97[ASN][1000 genomes]
rs12508451	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1261935	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12642878	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12643076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12643148	1.00[ASN][1000 genomes]
rs12646031	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12649614	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358594	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1406498	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1528910	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1528912	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1528913	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1729722	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1745246	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs1951704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs2091587	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2141467	1.00[ASN][1000 genomes]
rs2141468	0.98[ASN][1000 genomes]
rs2178291	1.00[ASN][1000 genomes]
rs2367273	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2886918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3796679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4127802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4259030	0.96[ASN][1000 genomes]
rs4568212	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4637366	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4694633	0.96[ASN][1000 genomes]
rs56785010	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61101665	1.00[ASN][1000 genomes]
rs6446950	0.89[ASN][1000 genomes]
rs6446951	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6446953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6446954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6818711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6836038	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6857472	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720702	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72865497	1.00[ASN][1000 genomes]
rs72865502	1.00[ASN][1000 genomes]
rs7655660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7656501	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7656608	0.98[ASN][1000 genomes]
rs7657356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7657358	1.00[ASN][1000 genomes]
rs7660448	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs7660923	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7665606	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7678280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7678307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7681924	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7681932	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7682745	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7683759	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7689702	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs942051	1.00[ASN][1000 genomes]
rs9991585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.91[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	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

No data

Chromatin state (count:12 , 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	chr4:74547600-74551000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:74548600-74553000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:74550000-74552600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:74550200-74552800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:74550200-74555200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:74550200-74563600	Weak transcription	HMEC	breast
8	chr4:74550400-74551200	Enhancers	Hela-S3	cervix
9	chr4:74550600-74552600	Weak transcription	HSMMtube	muscle
10	chr4:74550800-74555000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:74550800-74555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:74550800-74555600	Weak transcription	A549	lung

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