Variant report

Variant	rs360807
Chromosome Location	chr2:62926859-62926860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:62926107..62929773-chr2:62930954..62937858,8	K562	blood:
2	chr2:62924218..62929321-chr2:62929371..62934209,7	MCF-7	breast:
3	chr2:62919969..62928061-chr2:62929936..62935727,8	K562	blood:
4	chr2:62925529..62928377-chr2:62930964..62933788,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115504	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10168771	0.82[ASN][1000 genomes]
rs1022110	0.92[CEU][hapmap]
rs1038572	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11682530	0.93[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.92[YRI][hapmap]
rs11688816	0.93[ASW][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs11893131	0.96[CEU][hapmap];0.92[YRI][hapmap]
rs12328837	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12713467	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12713468	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12713469	0.80[CHB][hapmap];0.91[CHD][hapmap]
rs12989754	0.86[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12994674	0.86[ASN][1000 genomes]
rs13013218	0.86[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13398408	0.92[YRI][hapmap]
rs1386399	0.93[JPT][hapmap]
rs1420018	0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs1487074	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs1534418	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs1534420	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs1553832	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17027429	0.93[ASW][hapmap];0.92[CEU][hapmap];0.90[GIH][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap]
rs1828398	0.92[CEU][hapmap];0.83[YRI][hapmap]
rs1872789	0.93[JPT][hapmap]
rs1872790	1.00[JPT][hapmap]
rs189671	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1906198	0.87[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2080227	1.00[YRI][hapmap]
rs2136737	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2204655	0.93[JPT][hapmap]
rs2204656	0.93[JPT][hapmap]
rs2421816	0.87[CEU][hapmap];0.87[GIH][hapmap]
rs2430388	0.80[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.92[YRI][hapmap]
rs2710638	0.89[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap]
rs360797	1.00[ASW][hapmap];0.92[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.93[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs360799	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs360800	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs360801	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs360804	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs360808	0.89[CHB][hapmap];0.94[CHD][hapmap];0.85[ASN][1000 genomes]
rs3927201	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4461246	0.86[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4671050	0.93[ASW][hapmap];0.96[CEU][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4671448	0.85[CHB][hapmap]
rs4671450	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6545968	1.00[JPT][hapmap]
rs6545969	0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6545971	0.95[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.80[AMR][1000 genomes]
rs6545972	0.93[ASW][hapmap];0.92[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.92[YRI][hapmap]
rs6545973	0.87[CEU][hapmap];0.87[GIH][hapmap]
rs6705835	1.00[JPT][hapmap]
rs6757128	1.00[JPT][hapmap];0.83[YRI][hapmap]
rs7557501	0.93[ASW][hapmap];0.92[CEU][hapmap];0.90[GIH][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap]
rs7562149	0.86[ASW][hapmap];0.96[CEU][hapmap];0.87[GIH][hapmap];0.88[YRI][hapmap]
rs7567923	0.93[ASW][hapmap];0.92[CEU][hapmap];0.90[GIH][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap]
rs7573756	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9678329	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9973612	0.96[CEU][hapmap];0.88[YRI][hapmap]

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	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr2:62925800-62927000	Enhancers	HepG2	liver
2	chr2:62926000-62927600	Active TSS	Adipose Nuclei	Adipose
3	chr2:62926000-62930400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:62926200-62930600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:62926400-62927000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:62926400-62929200	Active TSS	Liver	Liver
7	chr2:62926400-62931800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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