Variant report

Variant	rs888279
Chromosome Location	chr2:56460013-56460014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1119821	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs1160647	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]
rs1160648	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs12612590	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs17268667	0.91[CHB][hapmap];0.81[CHD][hapmap];0.84[ASN][1000 genomes]
rs1861772	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[ASN][1000 genomes]
rs1990757	0.91[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs2193473	0.91[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2193474	0.91[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs2193475	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs2216323	0.91[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs2216324	0.84[ASN][1000 genomes]
rs2869527	0.91[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs2869528	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs34377123	0.84[ASN][1000 genomes]
rs4672100	0.88[ASN][1000 genomes]
rs56265195	0.85[ASN][1000 genomes]
rs6545558	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs6545559	0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.80[LWK][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6719608	0.91[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs727297	0.86[ASN][1000 genomes]
rs7579447	0.91[CHB][hapmap];0.81[CHD][hapmap];0.84[ASN][1000 genomes]
rs763345	0.90[CHB][hapmap]
rs979504	0.91[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs994297	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56457400-56461000	Weak transcription	HSMMtube	muscle
2	chr2:56458200-56466000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:56458600-56461000	Weak transcription	HSMM	muscle
4	chr2:56459200-56461200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:56459600-56460800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:56459800-56460600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:56459800-56460600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:56459800-56461200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:56459800-56462200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:56460000-56460600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr2:56460000-56460600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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