Variant report

Variant	rs612456
Chromosome Location	chr12:10974741-10974742
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1013312	0.82[ASN][1000 genomes]
rs1047699	0.88[ASN][1000 genomes]
rs10734841	0.88[ASN][1000 genomes]
rs10743927	0.88[ASN][1000 genomes]
rs10743929	0.82[ASN][1000 genomes]
rs10743930	0.82[ASN][1000 genomes]
rs10743931	0.82[ASN][1000 genomes]
rs10772369	0.85[ASN][1000 genomes]
rs10772371	0.82[ASN][1000 genomes]
rs10845220	0.88[ASN][1000 genomes]
rs10845223	0.82[ASN][1000 genomes]
rs10845224	0.82[ASN][1000 genomes]
rs11054053	0.82[ASN][1000 genomes]
rs12371547	0.82[ASN][1000 genomes]
rs1520225	0.82[ASN][1000 genomes]
rs1548804	0.88[ASN][1000 genomes]
rs1607694	0.82[ASN][1000 genomes]
rs2110098	0.82[ASN][1000 genomes]
rs2159899	0.88[ASN][1000 genomes]
rs2159900	0.85[ASN][1000 genomes]
rs2192139	0.82[ASN][1000 genomes]
rs2232958	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs2418106	0.88[ASN][1000 genomes]
rs2418214	0.82[ASN][1000 genomes]
rs2418215	0.82[ASN][1000 genomes]
rs2418218	0.85[ASN][1000 genomes]
rs2900552	0.82[ASN][1000 genomes]
rs3759250	0.91[ASN][1000 genomes]
rs3759251	0.97[ASN][1000 genomes]
rs4281556	0.82[ASN][1000 genomes]
rs4763217	0.82[ASN][1000 genomes]
rs58051461	0.91[ASN][1000 genomes]
rs58836988	0.80[ASN][1000 genomes]
rs592864	1.00[ASN][1000 genomes]
rs597468	0.94[AFR][1000 genomes]
rs60547308	0.91[ASN][1000 genomes]
rs60652912	1.00[ASN][1000 genomes]
rs640372	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs654834	1.00[ASN][1000 genomes]
rs668521	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687661	0.95[AFR][1000 genomes]
rs741092	0.88[ASN][1000 genomes]
rs763839	0.88[ASN][1000 genomes]
rs7957888	0.88[ASN][1000 genomes]
rs7978300	0.82[ASN][1000 genomes]
rs953950	0.88[ASN][1000 genomes]
rs965243	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049362	chr12:10893573-11018850	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv898776	chr12:10909412-11032045	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10973600-11009600	Weak transcription	HSMM	muscle
2	chr12:10974600-10975200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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