Variant report

Variant	rs6595236
Chromosome Location	chr5:119814488-119814489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10052315	1.00[ASN][1000 genomes]
rs10052334	1.00[ASN][1000 genomes]
rs10064623	1.00[ASN][1000 genomes]
rs10065330	1.00[ASN][1000 genomes]
rs10214171	0.84[CEU][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10477605	1.00[ASN][1000 genomes]
rs10478471	1.00[ASN][1000 genomes]
rs10478472	1.00[ASN][1000 genomes]
rs10478474	1.00[ASN][1000 genomes]
rs10519636	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs11949016	1.00[ASN][1000 genomes]
rs11957506	1.00[ASN][1000 genomes]
rs11958925	1.00[ASN][1000 genomes]
rs11960555	0.84[CEU][hapmap];0.96[YRI][hapmap];1.00[ASN][1000 genomes]
rs12109423	1.00[ASN][1000 genomes]
rs12523269	1.00[CHB][hapmap]
rs13356306	1.00[ASN][1000 genomes]
rs13356782	1.00[ASN][1000 genomes]
rs13357191	1.00[ASN][1000 genomes]
rs13359288	1.00[ASN][1000 genomes]
rs13359350	1.00[CHD][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs13360299	0.84[CEU][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs13361121	1.00[ASN][1000 genomes]
rs13362523	0.85[ASW][hapmap];0.84[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1404300	1.00[CHB][hapmap]
rs17146710	1.00[CHB][hapmap]
rs17491078	0.85[ASW][hapmap];0.84[CEU][hapmap];0.89[GIH][hapmap];0.90[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap]
rs1902147	1.00[CHB][hapmap]
rs2601210	1.00[CHB][hapmap]
rs2601211	1.00[CHB][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs2604163	1.00[CHB][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs2604164	1.00[ASN][1000 genomes]
rs2655067	0.87[MEX][hapmap];0.83[TSI][hapmap]
rs2655069	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs41357149	1.00[CHB][hapmap]
rs4476747	1.00[CHD][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs4895159	1.00[ASN][1000 genomes]
rs4895160	0.84[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4895257	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4895258	0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs4895259	0.91[YRI][hapmap];1.00[ASN][1000 genomes]
rs6595239	1.00[ASN][1000 genomes]
rs6871554	1.00[ASN][1000 genomes]
rs6888327	0.84[CEU][hapmap]
rs73264200	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73266107	1.00[ASN][1000 genomes]
rs7448156	1.00[ASN][1000 genomes]
rs7706025	1.00[ASN][1000 genomes]
rs7710626	1.00[ASN][1000 genomes]
rs7710848	1.00[CHD][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs7710928	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7712847	1.00[ASN][1000 genomes]
rs7728098	1.00[ASN][1000 genomes]
rs7733397	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7733602	1.00[CHB][hapmap]
rs9327144	1.00[CHD][hapmap];0.86[MEX][hapmap]
rs9327146	1.00[ASN][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	chr5:119812200-119814800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:119812200-119840000	Weak transcription	Fetal Lung	lung
6	chr5:119813200-119815200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:119813600-119814800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:119814200-119816200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:119814200-119816400	Enhancers	Osteobl	bone
10	chr5:119814200-119816600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:119814200-119816800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:119814200-119817000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:119814400-119814600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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