Variant report

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10088043	1.00[JPT][hapmap]
rs10088955	1.00[JPT][hapmap]
rs10092223	1.00[JPT][hapmap]
rs10102488	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10102673	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10109254	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10808635	1.00[JPT][hapmap]
rs13248522	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs13263602	1.00[JPT][hapmap]
rs13270617	1.00[JPT][hapmap]
rs13274956	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13281702	1.00[JPT][hapmap]
rs1375246	1.00[JPT][hapmap]
rs16912688	1.00[JPT][hapmap]
rs16912805	1.00[CHD][hapmap]
rs16912814	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs2197810	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2339303	1.00[JPT][hapmap]
rs4543502	1.00[JPT][hapmap]
rs4734031	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs4734032	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs4734035	0.85[CHD][hapmap]
rs4734519	1.00[JPT][hapmap]
rs4734520	1.00[JPT][hapmap]
rs4734539	1.00[JPT][hapmap]
rs6471277	1.00[JPT][hapmap]
rs6988446	1.00[JPT][hapmap]
rs7818318	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7823182	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7828102	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs921232	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs921235	1.00[JPT][hapmap]
rs9297893	1.00[JPT][hapmap]
rs9297895	1.00[CHB][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891190	chr8:92354921-92484872	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Fat distribution (HIV)	21897333	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs921231	PDP1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92357200-92361200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:92359800-92360400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:92359800-92360400	Enhancers	Psoas Muscle	Psoas
4	chr8:92359800-92360600	Active TSS	NHDF-Ad	bronchial
5	chr8:92360000-92360400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:92360000-92360400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:92360000-92360400	Active TSS	Brain Anterior Caudate	brain
8	chr8:92360000-92360400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr8:92360000-92360400	Enhancers	Gastric	stomach
10	chr8:92360000-92360400	Bivalent Enhancer	HSMMtube	muscle
11	chr8:92360000-92360600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:92360200-92360400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:92360200-92360400	Enhancers	Brain Hippocampus Middle	brain
14	chr8:92360200-92360600	Active TSS	Pancreatic Islets	Pancreatic Islet

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