Variant report

Variant	rs6912487
Chromosome Location	chr6:13030993-13030994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11751831	0.93[CEU][hapmap]
rs11753838	0.93[CEU][hapmap]
rs11755240	0.80[CEU][hapmap]
rs11755663	0.80[CEU][hapmap]
rs11757001	1.00[CEU][hapmap]
rs13215098	1.00[CEU][hapmap]
rs17323391	0.80[CEU][hapmap]
rs17375084	1.00[CEU][hapmap]
rs1937774	1.00[CEU][hapmap]
rs4129937	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4130157	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs4131857	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs4132045	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4273676	1.00[CEU][hapmap]
rs4329096	1.00[CEU][hapmap]
rs4389765	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs4432976	0.81[CHD][hapmap]
rs4537139	1.00[CEU][hapmap]
rs4616991	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4715065	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715068	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715069	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4715077	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs6458624	1.00[CEU][hapmap]
rs6907651	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918053	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs6936052	0.94[EUR][1000 genomes]
rs73366282	0.83[ASN][1000 genomes]
rs7762786	0.93[CEU][hapmap]
rs7775760	1.00[CEU][hapmap]
rs7775901	0.81[EUR][1000 genomes]
rs9349439	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9349440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367308	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369762	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381635	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9381638	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9395336	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]

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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13025600-13031800	Enhancers	Fetal Heart	heart
2	chr6:13026000-13031200	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:13026600-13034600	Weak transcription	Fetal Brain Female	brain
4	chr6:13027000-13031000	Weak transcription	HSMMtube	muscle
5	chr6:13027000-13032600	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:13027200-13037400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:13027600-13033000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:13027600-13038000	Weak transcription	Brain Angular Gyrus	brain
9	chr6:13027800-13039000	Weak transcription	Brain Anterior Caudate	brain
10	chr6:13028000-13032800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr6:13028000-13034800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:13028600-13034200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:13029600-13031400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:13029800-13036400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:13029800-13037200	Weak transcription	Left Ventricle	heart
16	chr6:13029800-13037400	Weak transcription	Right Ventricle	heart
17	chr6:13029800-13044600	Weak transcription	Lung	lung
18	chr6:13029800-13056400	Weak transcription	Pancreas	Pancrea
19	chr6:13030000-13056400	Weak transcription	Brain Germinal Matrix	brain
20	chr6:13030200-13036800	Weak transcription	Aorta	Aorta
21	chr6:13030600-13031400	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:13030800-13031200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:13030800-13031200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:13030800-13031200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:13030800-13031200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:13030800-13031200	Flanking Active TSS	NHDF-Ad	bronchial

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