Variant report

Variant	rs57606822
Chromosome Location	chr1:209914265-209914266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209913450..209916086-chr1:209919671..209921571,2	K562	blood:
2	chr1:209898728..209900231-chr1:209914075..209916050,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10489341	0.82[AFR][1000 genomes]
rs11119333	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11799643	0.83[AMR][1000 genomes]
rs12024779	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12040780	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075595	1.00[EUR][1000 genomes]
rs17015053	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17015095	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17015099	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56679555	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56822893	0.88[AFR][1000 genomes]
rs57756261	0.81[AFR][1000 genomes]
rs58627173	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60132042	1.00[ASN][1000 genomes]
rs61279558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6680324	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73089407	0.86[ASN][1000 genomes]
rs73089412	0.86[ASN][1000 genomes]
rs73089418	1.00[ASN][1000 genomes]
rs846909	1.00[ASN][1000 genomes]
rs846911	1.00[ASN][1000 genomes]
rs846914	0.86[ASN][1000 genomes]
rs846915	0.86[ASN][1000 genomes]
rs860185	1.00[ASN][1000 genomes]
rs861762	1.00[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1001588	chr1:209908876-209938243	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209902400-209915000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:209902400-209915400	Weak transcription	Brain Angular Gyrus	brain
3	chr1:209903000-209915200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:209906600-209914800	Weak transcription	Right Atrium	heart
5	chr1:209907600-209914800	Weak transcription	Spleen	Spleen
6	chr1:209907600-209920800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:209907800-209914600	Weak transcription	Right Ventricle	heart
8	chr1:209909800-209914600	Weak transcription	Ovary	ovary
9	chr1:209910600-209914600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:209910800-209915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:209913600-209915200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:209914000-209917200	Enhancers	Liver	Liver
13	chr1:209914200-209914400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:209914200-209914800	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:209914200-209916800	Enhancers	Fetal Intestine Large	intestine
16	chr1:209914200-209916800	Enhancers	Left Ventricle	heart

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