Variant report

Variant	rs6446950
Chromosome Location	chr4:74563508-74563509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74563007..74566093-chr4:74566214..74569321,4	K562	blood:
2	chr4:74558088..74561478-chr4:74562636..74566265,4	K562	blood:
3	chr4:74559978..74562265-chr4:74562768..74565190,2	K562	blood:
4	chr4:74562881..74566093-chr4:74566845..74569555,4	K562	blood:
5	chr4:74561984..74564157-chr4:74572990..74575349,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10025373	0.87[ASN][1000 genomes]
rs10029200	0.84[ASN][1000 genomes]
rs10938089	0.91[ASN][1000 genomes]
rs10938091	0.82[ASN][1000 genomes]
rs11722921	0.91[ASN][1000 genomes]
rs11938646	0.91[ASN][1000 genomes]
rs1247605	0.89[ASN][1000 genomes]
rs1247607	0.89[ASN][1000 genomes]
rs1247608	0.89[ASN][1000 genomes]
rs1247611	0.89[ASN][1000 genomes]
rs1247620	0.89[ASN][1000 genomes]
rs1247633	0.91[ASN][1000 genomes]
rs1247634	0.89[ASN][1000 genomes]
rs1247635	0.90[ASN][1000 genomes]
rs1247639	0.89[ASN][1000 genomes]
rs1247687	0.89[ASN][1000 genomes]
rs1247689	0.90[ASN][1000 genomes]
rs12508451	0.90[ASN][1000 genomes]
rs1261935	0.91[ASN][1000 genomes]
rs12642878	0.80[ASN][1000 genomes]
rs12643076	0.80[ASN][1000 genomes]
rs12643148	0.89[ASN][1000 genomes]
rs12646031	0.87[ASN][1000 genomes]
rs12649614	0.80[ASN][1000 genomes]
rs1269764	0.89[ASN][1000 genomes]
rs1269766	0.89[ASN][1000 genomes]
rs1358594	0.90[ASN][1000 genomes]
rs1406498	0.91[ASN][1000 genomes]
rs1528910	0.91[ASN][1000 genomes]
rs1528912	0.87[ASN][1000 genomes]
rs1528913	0.87[ASN][1000 genomes]
rs1729722	0.90[ASN][1000 genomes]
rs1745246	0.90[ASN][1000 genomes]
rs1951702	0.87[ASN][1000 genomes]
rs1951703	0.90[ASN][1000 genomes]
rs1951704	0.87[ASN][1000 genomes]
rs1951705	0.90[ASN][1000 genomes]
rs2091587	0.91[ASN][1000 genomes]
rs2141467	0.89[ASN][1000 genomes]
rs2141468	0.91[ASN][1000 genomes]
rs2178291	0.89[ASN][1000 genomes]
rs2367273	0.91[ASN][1000 genomes]
rs2886918	0.89[ASN][1000 genomes]
rs3796679	0.82[ASN][1000 genomes]
rs4127802	0.87[ASN][1000 genomes]
rs4259030	0.90[ASN][1000 genomes]
rs4568212	0.87[ASN][1000 genomes]
rs4637366	0.82[ASN][1000 genomes]
rs4694633	0.90[ASN][1000 genomes]
rs56785010	0.87[ASN][1000 genomes]
rs61101665	0.89[ASN][1000 genomes]
rs6446951	0.87[ASN][1000 genomes]
rs6446953	0.80[ASN][1000 genomes]
rs6446954	0.80[ASN][1000 genomes]
rs6818711	0.80[ASN][1000 genomes]
rs6836038	0.87[ASN][1000 genomes]
rs6857472	0.87[ASN][1000 genomes]
rs720702	0.82[ASN][1000 genomes]
rs72865497	0.89[ASN][1000 genomes]
rs72865502	0.89[ASN][1000 genomes]
rs7655660	0.80[ASN][1000 genomes]
rs7656501	0.82[ASN][1000 genomes]
rs7656608	0.91[ASN][1000 genomes]
rs7657356	0.80[ASN][1000 genomes]
rs7657358	0.89[ASN][1000 genomes]
rs7660448	0.91[ASN][1000 genomes]
rs7660923	0.80[ASN][1000 genomes]
rs7665606	0.80[ASN][1000 genomes]
rs7678280	0.82[ASN][1000 genomes]
rs7678307	0.82[ASN][1000 genomes]
rs7681924	0.80[ASN][1000 genomes]
rs7681932	0.87[ASN][1000 genomes]
rs7682745	0.82[ASN][1000 genomes]
rs7683759	0.80[ASN][1000 genomes]
rs7689702	0.87[ASN][1000 genomes]
rs942051	0.89[ASN][1000 genomes]
rs9991585	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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:15 , 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	chr4:74558400-74563600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:74558400-74563600	Weak transcription	HUVEC	blood vessel
6	chr4:74558400-74563800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:74558600-74563600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:74558600-74563600	Weak transcription	NHEK	skin
9	chr4:74558600-74567200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:74558800-74563600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:74558800-74563800	Weak transcription	Hela-S3	cervix
12	chr4:74560200-74563800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:74562000-74563600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:74563400-74564000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:74563400-74564800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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