Variant report

Variant	rs2604163
Chromosome Location	chr5:119814917-119814918
allele	A/C
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: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10035683	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs10052263	0.81[AFR][1000 genomes]
rs10052334	0.81[AFR][1000 genomes]
rs10064623	0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs10065330	0.86[AFR][1000 genomes]
rs10213989	0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs10477605	0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs10478471	0.81[AFR][1000 genomes]
rs10478472	0.84[YRI][hapmap];0.86[AFR][1000 genomes]
rs10478473	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs10478474	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs11949016	0.84[AFR][1000 genomes]
rs12523269	1.00[CHB][hapmap]
rs13361121	0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs13362523	0.81[MEX][hapmap]
rs1404300	1.00[CHB][hapmap]
rs1454982	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16766	0.81[ASW][hapmap];0.85[MKK][hapmap];0.82[YRI][hapmap]
rs17146710	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17491078	0.81[MEX][hapmap]
rs1823926	0.87[YRI][hapmap]
rs1902147	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2601208	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs2601210	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]
rs2601211	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2604164	0.93[CEU][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2604165	0.93[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655066	0.87[CEU][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2655067	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2655069	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691097	0.81[CEU][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2691100	0.87[CEU][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs300956	0.86[AFR][1000 genomes]
rs41357149	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4476747	0.87[ASW][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs4895261	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs6595236	1.00[CHB][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs6595239	0.84[YRI][hapmap];0.87[AFR][1000 genomes]
rs6865123	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6882134	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6883068	1.00[JPT][hapmap]
rs6892665	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6895369	0.86[YRI][hapmap]
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	0.81[YRI][hapmap];0.87[AFR][1000 genomes]
rs7710004	0.81[ASW][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs7710626	0.87[AFR][1000 genomes]
rs7710848	0.94[ASW][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs7710928	1.00[CHB][hapmap]
rs7712847	0.88[AFR][1000 genomes]
rs7728098	0.86[AFR][1000 genomes]
rs7733602	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.87[MKK][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9327144	0.87[ASW][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.87[MKK][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs9327145	0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs9327146	0.81[YRI][hapmap];0.83[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:18 , 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	chr5:119813200-119815200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:119814200-119816200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:119814200-119816400	Enhancers	Osteobl	bone
8	chr5:119814200-119816600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:119814200-119816800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:119814200-119817000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:119814600-119815000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:119814600-119815200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:119814600-119815200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:119814800-119815200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:119814800-119815200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:119814800-119815200	Enhancers	HSMMtube	muscle
17	chr5:119814800-119816200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:119814800-119816800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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