Variant report

Variant	rs2348622
Chromosome Location	chr4:160688068-160688069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10517708	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932325	0.95[EUR][1000 genomes]
rs11932978	0.89[EUR][1000 genomes]
rs11933231	0.95[EUR][1000 genomes]
rs11933830	0.95[EUR][1000 genomes]
rs11940086	0.95[EUR][1000 genomes]
rs11946735	0.95[EUR][1000 genomes]
rs12498243	1.00[ASN][1000 genomes]
rs1379604	1.00[ASN][1000 genomes]
rs1379605	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457812	1.00[ASN][1000 genomes]
rs17038730	0.89[EUR][1000 genomes]
rs1902828	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2348619	0.85[EUR][1000 genomes]
rs4596201	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4690956	1.00[ASN][1000 genomes]
rs4691610	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4691611	0.85[AFR][1000 genomes]
rs58629298	0.95[EUR][1000 genomes]
rs60159765	0.89[EUR][1000 genomes]
rs60600892	0.95[EUR][1000 genomes]
rs60614467	0.95[EUR][1000 genomes]
rs6814758	1.00[EUR][1000 genomes]
rs6816142	0.95[EUR][1000 genomes]
rs6823726	1.00[EUR][1000 genomes]
rs6827748	0.89[EUR][1000 genomes]
rs6840791	0.95[EUR][1000 genomes]
rs6855630	0.89[EUR][1000 genomes]
rs6855714	0.95[EUR][1000 genomes]
rs7675486	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307995	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs9684747	1.00[EUR][1000 genomes]
rs9685442	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs991839	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991840	1.00[ASN][1000 genomes]
rs9996003	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	nsv1015469	chr4:160389277-160841619	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537316	chr4:160389277-160841619	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160685200-160689800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:160685400-160689600	Enhancers	NH-A	brain
3	chr4:160686000-160691800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:160686200-160692200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:160687400-160688200	Genic enhancers	HSMM	muscle
6	chr4:160687400-160691400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:160688000-160688400	Weak transcription	HSMMtube	muscle
8	chr4:160688000-160689800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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