Variant report

Variant	rs4131857
Chromosome Location	chr6:13038879-13038880
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11751831	0.93[CEU][hapmap]
rs11753838	0.93[CEU][hapmap]
rs11755663	1.00[JPT][hapmap]
rs11757001	0.87[CEU][hapmap]
rs12526453	1.00[JPT][hapmap]
rs12530250	1.00[JPT][hapmap]
rs13201878	1.00[JPT][hapmap]
rs13215098	0.87[CEU][hapmap]
rs13220463	1.00[JPT][hapmap]
rs1332841	1.00[JPT][hapmap]
rs1360579	1.00[JPT][hapmap]
rs17323391	1.00[JPT][hapmap]
rs17375084	0.87[CEU][hapmap]
rs17679501	1.00[JPT][hapmap]
rs1937774	0.87[CEU][hapmap]
rs2183072	1.00[JPT][hapmap]
rs28360598	0.86[ASN][1000 genomes]
rs35241555	0.86[ASN][1000 genomes]
rs35684248	0.86[ASN][1000 genomes]
rs4129937	0.85[CEU][hapmap]
rs4130157	0.87[CEU][hapmap];0.91[TSI][hapmap]
rs4236098	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273676	0.87[CEU][hapmap]
rs4329096	0.93[CEU][hapmap]
rs4331981	1.00[JPT][hapmap]
rs4389765	0.87[CEU][hapmap];0.88[TSI][hapmap]
rs4537139	0.87[CEU][hapmap]
rs4616991	0.90[EUR][1000 genomes]
rs4711857	1.00[JPT][hapmap]
rs4711858	1.00[JPT][hapmap]
rs4714946	1.00[JPT][hapmap]
rs4715065	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs4715068	0.90[EUR][1000 genomes]
rs4715069	0.87[EUR][1000 genomes]
rs4715077	0.87[CEU][hapmap];0.91[TSI][hapmap]
rs6458624	0.87[CEU][hapmap]
rs6907388	1.00[JPT][hapmap]
rs6907651	0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs6912487	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs6918053	0.87[CEU][hapmap];0.88[TSI][hapmap]
rs6936052	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739181	1.00[JPT][hapmap]
rs7762786	0.93[CEU][hapmap]
rs7775760	0.87[CEU][hapmap]
rs7775901	0.87[CEU][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9349440	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs9367308	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs9369762	0.87[CEU][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs9395336	0.85[CEU][hapmap]
rs9472777	1.00[JPT][hapmap]
rs9472786	1.00[JPT][hapmap]
rs9473086	0.81[GIH][hapmap];1.00[JPT][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4131857	HIVEP1	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13027800-13039000	Weak transcription	Brain Anterior Caudate	brain
2	chr6:13029800-13044600	Weak transcription	Lung	lung
3	chr6:13029800-13056400	Weak transcription	Pancreas	Pancrea
4	chr6:13030000-13056400	Weak transcription	Brain Germinal Matrix	brain
5	chr6:13035400-13040000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:13035400-13040600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:13036200-13040200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:13037200-13042200	Enhancers	Fetal Heart	heart
9	chr6:13037400-13039400	Enhancers	Stomach Smooth Muscle	stomach
10	chr6:13037400-13039800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:13037400-13040600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:13037800-13039400	Enhancers	Colon Smooth Muscle	Colon
13	chr6:13038000-13044600	Weak transcription	Left Ventricle	heart
14	chr6:13038200-13039200	Enhancers	Adipose Nuclei	Adipose
15	chr6:13038200-13045800	Weak transcription	Right Ventricle	heart
16	chr6:13038200-13047800	Weak transcription	Aorta	Aorta
17	chr6:13038200-13053400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:13038400-13039400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:13038400-13039400	Enhancers	NHEK	skin
20	chr6:13038600-13039000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:13038600-13039200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:13038600-13039200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:13038600-13039400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:13038600-13039400	Enhancers	Brain Angular Gyrus	brain
25	chr6:13038600-13039400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr6:13038600-13039400	Enhancers	Fetal Stomach	stomach
27	chr6:13038600-13039600	Enhancers	Fetal Brain Female	brain
28	chr6:13038800-13039800	Enhancers	Fetal Lung	lung
29	chr6:13038800-13040600	Enhancers	Brain Hippocampus Middle	brain

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