Variant report

Variant	rs12612916
Chromosome Location	chr2:46707886-46707887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46705265..46709008-chr2:46724758..46728950,5	K562	blood:
2	chr2:46707494..46710484-chr2:46718946..46721502,2	K562	blood:
3	chr2:46703332..46705552-chr2:46707048..46709063,2	K562	blood:

Variant related genes	Relation type
ENSG00000253515	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11125078	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12470939	0.85[EUR][1000 genomes]
rs12471274	0.84[EUR][1000 genomes]
rs12473673	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12474961	0.86[CHB][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12474965	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12475015	0.86[AMR][1000 genomes]
rs12613088	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12617193	0.86[EUR][1000 genomes]
rs12619386	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12619696	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];0.86[EUR][1000 genomes]
rs12619754	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12621486	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs12622818	0.91[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs1530623	0.91[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs1551123	1.00[CEU][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.86[EUR][1000 genomes]
rs1562454	1.00[CEU][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.86[EUR][1000 genomes]
rs17035200	0.81[JPT][hapmap];0.81[MEX][hapmap];0.88[EUR][1000 genomes]
rs1868095	0.80[EUR][1000 genomes]
rs1868845	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2053766	0.85[EUR][1000 genomes]
rs2121699	0.87[CHB][hapmap];0.80[EUR][1000 genomes]
rs2166746	0.91[CHB][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs2276556	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2881326	0.82[EUR][1000 genomes]
rs35589072	0.83[EUR][1000 genomes]
rs4145835	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4952825	1.00[ASW][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];0.89[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4952826	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.83[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4952827	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4953364	0.83[GIH][hapmap];0.93[MEX][hapmap];0.83[EUR][1000 genomes]
rs4953370	0.85[EUR][1000 genomes]
rs4953376	0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs4953395	0.88[EUR][1000 genomes]
rs55871716	0.88[EUR][1000 genomes]
rs56894248	0.86[EUR][1000 genomes]
rs57996107	0.84[EUR][1000 genomes]
rs58402726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58725320	0.91[EUR][1000 genomes]
rs59013670	0.88[EUR][1000 genomes]
rs59761895	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs59856996	0.86[EUR][1000 genomes]
rs60685999	0.86[EUR][1000 genomes]
rs61193538	0.84[EUR][1000 genomes]
rs66533451	0.88[EUR][1000 genomes]
rs6714240	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6723195	0.88[EUR][1000 genomes]
rs6746695	1.00[CEU][hapmap]
rs67739992	0.88[EUR][1000 genomes]
rs67960524	0.86[EUR][1000 genomes]
rs68030749	0.84[EUR][1000 genomes]
rs72618620	0.82[EUR][1000 genomes]
rs72618621	0.82[EUR][1000 genomes]
rs72618622	0.85[EUR][1000 genomes]
rs72618623	0.85[EUR][1000 genomes]
rs72618624	0.85[EUR][1000 genomes]
rs72618625	0.85[EUR][1000 genomes]
rs72618626	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72618627	0.85[EUR][1000 genomes]
rs72618628	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72618629	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72618631	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72618632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72873772	0.88[EUR][1000 genomes]
rs7573688	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7574467	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7595513	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.86[EUR][1000 genomes]
rs9710956	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv581746	chr2:46699145-46719922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:46689200-46714800	Weak transcription	Right Atrium	heart
2	chr2:46700200-46714800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:46705000-46716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:46706600-46708400	Enhancers	Lung	lung
5	chr2:46707400-46708200	Enhancers	Placenta	Placenta
6	chr2:46707400-46709200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:46707400-46710000	Enhancers	Hela-S3	cervix
8	chr2:46707600-46709400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:46707800-46708400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:46707800-46708600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:46707800-46709600	Enhancers	HUVEC	blood vessel

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