Variant report

Variant	rs12612917
Chromosome Location	chr2:179275401-179275402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179269194..179271772-chr2:179274034..179275592,2	K562	blood:
2	chr2:179273639..179276585-chr2:179277068..179279644,4	K562	blood:
3	chr2:179274878..179278568-chr2:179284211..179288261,3	K562	blood:
4	chr2:179258451..179260379-chr2:179275317..179277044,2	K562	blood:

Variant related genes	Relation type
ENSG00000223960	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10497515	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10497516	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12613303	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs12615980	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12616943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619401	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16866323	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2195070	1.00[CEU][hapmap]
rs2276619	0.89[EUR][1000 genomes]
rs2276620	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3731756	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3731758	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3765020	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3816073	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4491754	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs55714261	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55821514	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs56065555	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56165369	0.83[AMR][1000 genomes]
rs56233214	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734446	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6736173	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6736304	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6757474	1.00[CEU][hapmap]
rs6757481	1.00[CEU][hapmap]
rs73034339	0.83[EUR][1000 genomes]
rs73034346	0.89[EUR][1000 genomes]
rs73034359	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73034362	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73034364	0.89[EUR][1000 genomes]
rs73034377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584420	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179269400-179277600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:179270000-179277800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:179270000-179277800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:179270600-179277800	Weak transcription	HSMM	muscle
5	chr2:179271000-179277000	Weak transcription	K562	blood
6	chr2:179271000-179277600	Weak transcription	GM12878-XiMat	blood
7	chr2:179271000-179277800	Weak transcription	HSMMtube	muscle
8	chr2:179272200-179277600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:179272200-179278000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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