Variant report

Variant	rs8082114
Chromosome Location	chr17:67077473-67077474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:67074676..67077837-chr17:67079761..67081398,3	K562	blood:
2	chr17:67062679..67065197-chr17:67076968..67078802,2	K562	blood:
3	chr17:67076831..67080941-chr17:67082986..67085538,3	K562	blood:

Variant related genes	Relation type
ENSG00000154262	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10491178	0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11077946	0.85[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11656320	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103556	0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12600759	0.95[ASN][1000 genomes]
rs12601012	1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12602007	0.84[EUR][1000 genomes]
rs12602396	0.90[CHB][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs12602766	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12602816	0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs12602962	0.84[EUR][1000 genomes]
rs12938420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945932	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468514	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16973562	0.90[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs16973656	0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16973672	0.80[ASN][1000 genomes]
rs16973722	0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs16973774	0.81[CHB][hapmap]
rs1860120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968099	0.81[EUR][1000 genomes]
rs2233767	0.91[CHB][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2233768	0.90[CHB][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286419	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2302289	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886048	0.94[ASW][hapmap];0.91[CHB][hapmap];0.95[LWK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35991088	0.91[CHB][hapmap]
rs36145749	0.84[EUR][1000 genomes]
rs41496448	0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs4968786	0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs4968837	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4968844	0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968996	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57736258	0.84[EUR][1000 genomes]
rs58452744	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58761646	0.81[EUR][1000 genomes]
rs6502001	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap]
rs6502002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502005	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7209351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7212506	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7212963	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73356149	0.83[ASN][1000 genomes]
rs736528	0.85[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7501583	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7501929	0.81[EUR][1000 genomes]
rs758255	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs764178	0.91[CHB][hapmap]
rs8065842	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8067965	0.91[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8068468	0.91[CHB][hapmap];0.84[EUR][1000 genomes]
rs8080508	0.89[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8081118	0.82[ASW][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9282553	0.85[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9282554	0.91[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9282555	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9889289	0.85[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9896308	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9904389	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9905622	0.81[EUR][1000 genomes]
rs9909265	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1066998	chr17:67060038-67090475	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv908705	chr17:67061898-67112456	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67057800-67077600	Weak transcription	Fetal Brain Male	brain
2	chr17:67065600-67088600	Weak transcription	Pancreas	Pancrea
3	chr17:67066000-67078800	Weak transcription	NHDF-Ad	bronchial
4	chr17:67067200-67099600	Weak transcription	Gastric	stomach
5	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:67070200-67079000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:67071800-67091400	Weak transcription	Brain Anterior Caudate	brain
8	chr17:67072800-67078800	Strong transcription	Liver	Liver
9	chr17:67073000-67078800	Strong transcription	Adipose Nuclei	Adipose
10	chr17:67073600-67078000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:67074000-67078600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr17:67074000-67078600	Weak transcription	GM12878-XiMat	blood
13	chr17:67074200-67078800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:67074400-67078000	Weak transcription	Fetal Muscle Leg	muscle
15	chr17:67074400-67078800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:67074600-67083800	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:67075200-67078800	Strong transcription	Ovary	ovary
18	chr17:67075200-67078800	Weak transcription	Psoas Muscle	Psoas
19	chr17:67075200-67081200	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr17:67075400-67078600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr17:67075600-67085600	Strong transcription	Fetal Lung	lung
22	chr17:67075800-67079000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr17:67076200-67078000	Weak transcription	Right Ventricle	heart
24	chr17:67076400-67078800	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr17:67076600-67079200	Weak transcription	Fetal Stomach	stomach
26	chr17:67076800-67078400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr17:67076800-67109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr17:67077000-67078000	Weak transcription	Left Ventricle	heart
29	chr17:67077000-67078600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:67077200-67078800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:67077400-67077800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr17:67077400-67078800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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