Variant report

Variant	rs1160647
Chromosome Location	chr2:56453700-56453701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10210479	0.82[JPT][hapmap]
rs1119821	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs1160648	0.91[CHB][hapmap];0.82[CHD][hapmap];0.87[ASN][1000 genomes]
rs12612590	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs13026932	0.80[JPT][hapmap]
rs17268667	0.95[CHB][hapmap];0.84[CHD][hapmap];0.88[ASN][1000 genomes]
rs1861772	0.95[CHB][hapmap];0.84[CHD][hapmap];0.89[ASN][1000 genomes]
rs1990757	0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs214047	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs2193473	0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2193474	0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs2193475	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs2216323	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs2216324	0.88[ASN][1000 genomes]
rs2869527	0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2869528	0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs34377123	0.89[ASN][1000 genomes]
rs4672100	0.92[ASN][1000 genomes]
rs56265195	0.89[ASN][1000 genomes]
rs6545558	0.91[CHB][hapmap];0.92[CHD][hapmap]
rs6545559	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6719608	0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs727297	0.82[ASN][1000 genomes]
rs7579447	0.95[CHB][hapmap];0.84[CHD][hapmap];0.89[ASN][1000 genomes]
rs763345	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs888279	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs979504	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs994297	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv874169	chr2:56383762-56473480	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv961718	chr2:56444857-56453716	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56446800-56454600	Weak transcription	HSMM	muscle
2	chr2:56452000-56454400	Weak transcription	HUVEC	blood vessel
3	chr2:56453000-56454800	Enhancers	Muscle Satellite Cultured Cells	--

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