Variant report

Variant	rs3847956
Chromosome Location	chr12:120053597-120053598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120051910..120054860-chr12:120060682..120062555,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10732608	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10744740	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10744741	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744742	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774504	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774505	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774507	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10774509	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10849673	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849674	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849679	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849682	0.93[ASN][1000 genomes]
rs10849683	0.91[ASN][1000 genomes]
rs10849684	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10849685	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10849687	0.91[EUR][1000 genomes]
rs11064842	0.90[ASN][1000 genomes]
rs11064843	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11064855	0.92[ASN][1000 genomes]
rs11064856	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11064858	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11064864	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11064868	0.91[EUR][1000 genomes]
rs1109856	0.86[ASN][1000 genomes]
rs1154836	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12579854	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12582735	0.86[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12708371	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12827937	0.97[ASN][1000 genomes]
rs1303904	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1319529	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1476453	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1858982	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1966324	0.87[EUR][1000 genomes]
rs2015795	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2078938	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2157806	0.97[ASN][1000 genomes]
rs2301653	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2301654	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2301655	0.86[CHD][hapmap];0.87[GIH][hapmap]
rs2393550	0.81[MEX][hapmap]
rs2519536	0.81[MEX][hapmap];0.82[MKK][hapmap]
rs2893796	0.97[ASN][1000 genomes]
rs2893805	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4766944	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4766945	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4767830	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4767831	0.83[ASN][1000 genomes]
rs4767832	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767833	0.98[ASN][1000 genomes]
rs4767834	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4767835	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6490260	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6490261	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6490262	0.92[EUR][1000 genomes]
rs7138785	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7295362	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7306273	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7310741	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7316295	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs739423	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7954674	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7955433	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7955441	0.82[CEU][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7957284	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7958547	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7959425	0.81[ASN][1000 genomes]
rs7965791	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7978341	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7981024	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9668717	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120048600-120059600	Weak transcription	HSMMtube	muscle
2	chr12:120049200-120054000	Weak transcription	HSMM	muscle
3	chr12:120050800-120053800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:120051600-120053600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:120051800-120053600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:120053000-120055400	Weak transcription	Psoas Muscle	Psoas
7	chr12:120053400-120054200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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