Variant report

Variant	rs6431206
Chromosome Location	chr2:127723937-127723938
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10168813	0.90[ASN][1000 genomes]
rs10803617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10803618	0.94[ASN][1000 genomes]
rs12053575	0.94[ASN][1000 genomes]
rs12620265	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12692123	0.90[ASN][1000 genomes]
rs1553844	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1553845	0.84[ASN][1000 genomes]
rs1912498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28758224	0.90[ASN][1000 genomes]
rs4662692	0.84[ASN][1000 genomes]
rs4662695	0.94[ASN][1000 genomes]
rs4662696	0.94[ASN][1000 genomes]
rs4662697	0.82[ASN][1000 genomes]
rs4662698	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4662699	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4663070	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4663075	0.94[ASN][1000 genomes]
rs4663076	0.94[ASN][1000 genomes]
rs4663077	0.94[ASN][1000 genomes]
rs4663079	0.94[ASN][1000 genomes]
rs4663080	0.94[ASN][1000 genomes]
rs4663081	0.94[ASN][1000 genomes]
rs4663082	0.94[ASN][1000 genomes]
rs4663083	0.94[ASN][1000 genomes]
rs55962144	0.86[ASN][1000 genomes]
rs61633215	0.88[ASN][1000 genomes]
rs6431201	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6431207	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431208	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431209	0.94[ASN][1000 genomes]
rs6431210	0.94[ASN][1000 genomes]
rs6431211	0.88[ASN][1000 genomes]
rs6431212	0.88[ASN][1000 genomes]
rs6732056	0.88[ASN][1000 genomes]
rs6736826	0.88[ASN][1000 genomes]
rs6749935	0.94[ASN][1000 genomes]
rs6753685	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72976756	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72980845	0.88[ASN][1000 genomes]
rs72980853	1.00[EUR][1000 genomes]
rs72980861	1.00[EUR][1000 genomes]
rs73952788	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73952789	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7419804	0.94[ASN][1000 genomes]
rs7420039	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7423317	0.94[ASN][1000 genomes]
rs7424763	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556956	0.94[ASN][1000 genomes]
rs7557069	0.94[ASN][1000 genomes]
rs7565248	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7590060	0.90[ASN][1000 genomes]
rs870468	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9967839	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv528979	chr2:127714880-127724610	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv1000403	chr2:127716846-127725383	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv990429	chr2:127717449-127724785	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	nsv511177	chr2:127717881-127723984	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127722000-127724200	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:127722000-127727200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:127723800-127724000	Enhancers	Fetal Brain Male	brain

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