Variant report

Variant	rs16973774
Chromosome Location	chr17:67215088-67215089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10491178	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11656320	0.81[CHB][hapmap]
rs12103556	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12601012	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12602007	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12602766	0.83[EUR][1000 genomes]
rs12602816	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12602962	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12604047	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1468514	0.81[CHB][hapmap]
rs16973656	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16973672	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16973722	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1860120	0.81[CHB][hapmap]
rs1968099	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2233767	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2233768	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286419	0.81[CHB][hapmap]
rs35991088	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36145749	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3891333	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41496448	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4331393	0.83[EUR][1000 genomes]
rs4968786	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4968787	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4968837	0.81[EUR][1000 genomes]
rs4968844	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4968853	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55821831	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57736258	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58452744	0.81[EUR][1000 genomes]
rs58761646	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6502001	0.81[CHB][hapmap]
rs6502002	0.81[CHB][hapmap]
rs6502005	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs7209351	0.81[CHB][hapmap]
rs7212506	0.91[CHB][hapmap]
rs73356149	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs736528	0.91[CHB][hapmap]
rs7501929	1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs764178	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8065842	0.81[EUR][1000 genomes]
rs8067965	0.85[CEU][hapmap];0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs8068468	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8080508	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs8081118	0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs8082114	0.81[CHB][hapmap]
rs9282553	0.83[CHB][hapmap]
rs9282554	0.82[CEU][hapmap];0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs9282555	0.81[EUR][1000 genomes]
rs9889289	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9904389	0.81[EUR][1000 genomes]
rs9905622	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv457888	chr17:67149973-67226643	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv575931	chr17:67149973-67226643	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv575933	chr17:67153386-67215712	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv516799	chr17:67210267-67231581	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
9	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67144000-67236000	Weak transcription	Psoas Muscle	Psoas
2	chr17:67160600-67220000	Weak transcription	Fetal Lung	lung
3	chr17:67173400-67230000	Weak transcription	Pancreas	Pancrea
4	chr17:67189800-67221400	Weak transcription	Right Ventricle	heart
5	chr17:67192600-67219200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:67201600-67215200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:67206000-67215200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:67207600-67247800	Weak transcription	Left Ventricle	heart
9	chr17:67207800-67215400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr17:67209600-67216800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:67209800-67215200	Weak transcription	Lung	lung
12	chr17:67209800-67217800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr17:67209800-67223200	Weak transcription	Fetal Muscle Leg	muscle
14	chr17:67210000-67215400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:67210000-67218200	Weak transcription	Fetal Intestine Small	intestine
16	chr17:67210000-67219800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr17:67210400-67219800	Weak transcription	GM12878-XiMat	blood
18	chr17:67212200-67216800	Weak transcription	Small Intestine	intestine
19	chr17:67213400-67219200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:67213800-67220000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr17:67213800-67230400	Weak transcription	Brain Angular Gyrus	brain
22	chr17:67214000-67216800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:67214800-67215400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:67214800-67215600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr17:67214800-67217000	Strong transcription	Liver	Liver
26	chr17:67214800-67218600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr17:67214800-67218600	Strong transcription	Adipose Nuclei	Adipose
28	chr17:67215000-67215600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:67215000-67215600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:67215000-67215600	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr17:67215000-67215600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr17:67215000-67215600	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr17:67215000-67215600	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr17:67215000-67215600	Enhancers	NHEK	skin
35	chr17:67215000-67215800	Enhancers	HMEC	breast
36	chr17:67215000-67218600	Strong transcription	Ovary	ovary
37	chr17:67215000-67220000	Weak transcription	Stomach Smooth Muscle	stomach

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