Variant report

Variant	rs2601210
Chromosome Location	chr5:119815306-119815307
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	chr5:119814891..119816438-chr5:119818822..119820625,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10035683	0.87[AFR][1000 genomes]
rs10052263	0.82[AFR][1000 genomes]
rs10052334	0.82[AFR][1000 genomes]
rs10064623	0.85[AFR][1000 genomes]
rs10065330	0.87[AFR][1000 genomes]
rs10213989	0.85[AFR][1000 genomes]
rs10477605	0.85[AFR][1000 genomes]
rs10478471	0.82[AFR][1000 genomes]
rs10478472	0.87[AFR][1000 genomes]
rs10478473	0.85[AFR][1000 genomes]
rs10478474	0.87[AFR][1000 genomes]
rs11949016	0.85[AFR][1000 genomes]
rs13356306	0.80[AFR][1000 genomes]
rs13361121	0.87[AFR][1000 genomes]
rs1404300	1.00[CHB][hapmap]
rs1454982	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17146710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1902147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2601208	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs2601211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2604163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2604164	0.93[CEU][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2604165	0.93[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655066	0.88[CEU][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2655067	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655069	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691094	0.83[AFR][1000 genomes]
rs2691097	0.81[CEU][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2691100	0.88[CEU][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs300956	0.88[AFR][1000 genomes]
rs41357149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4476747	0.87[AFR][1000 genomes]
rs4895261	1.00[JPT][hapmap]
rs6595236	1.00[CHB][hapmap]
rs6595239	0.87[AFR][1000 genomes]
rs6865123	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6882134	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6883068	1.00[JPT][hapmap]
rs6892665	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72786259	0.92[ASN][1000 genomes]
rs72786263	0.92[ASN][1000 genomes]
rs72788220	0.92[ASN][1000 genomes]
rs72788221	0.92[ASN][1000 genomes]
rs72788225	0.92[ASN][1000 genomes]
rs72788230	0.92[ASN][1000 genomes]
rs72788233	0.92[ASN][1000 genomes]
rs72788245	0.85[ASN][1000 genomes]
rs72788246	0.85[ASN][1000 genomes]
rs7706025	0.87[AFR][1000 genomes]
rs7710004	0.87[AFR][1000 genomes]
rs7710626	0.87[AFR][1000 genomes]
rs7710928	1.00[CHB][hapmap]
rs7712847	0.91[AFR][1000 genomes]
rs7728098	0.87[AFR][1000 genomes]
rs7733602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9327144	0.87[AFR][1000 genomes]
rs9327145	0.85[AFR][1000 genomes]
rs9327146	0.85[AFR][1000 genomes]
rs9687538	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 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	chr5:119808600-119835800	Weak transcription	HSMM	muscle
2	chr5:119809800-119816800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:119812000-119826800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:119812200-119840000	Weak transcription	Fetal Lung	lung
5	chr5:119814200-119816200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:119814200-119816400	Enhancers	Osteobl	bone
7	chr5:119814200-119816600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:119814200-119816800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:119814200-119817000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:119814800-119816200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:119814800-119816800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:119815000-119816600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:119815200-119817800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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