Variant report

Variant	rs471193
Chromosome Location	chr17:67271700-67271701
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10512526	0.95[JPT][hapmap]
rs10512527	0.95[JPT][hapmap]
rs11077445	0.95[JPT][hapmap]
rs112914	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11650955	0.95[JPT][hapmap]
rs11652207	0.95[JPT][hapmap]
rs11654323	0.95[JPT][hapmap]
rs11656389	0.95[JPT][hapmap]
rs11656456	0.90[JPT][hapmap]
rs12449649	0.95[JPT][hapmap]
rs12450167	0.95[JPT][hapmap]
rs12450522	0.82[JPT][hapmap]
rs12450743	0.95[JPT][hapmap]
rs12452340	0.95[JPT][hapmap]
rs12937191	0.89[JPT][hapmap]
rs12937947	0.90[JPT][hapmap]
rs12938039	0.88[JPT][hapmap]
rs12938064	0.95[JPT][hapmap]
rs12939436	0.82[AMR][1000 genomes]
rs12940364	0.90[JPT][hapmap]
rs12941297	0.95[JPT][hapmap]
rs12942763	0.82[JPT][hapmap]
rs12942867	0.95[JPT][hapmap]
rs12943504	0.95[JPT][hapmap]
rs12945481	0.95[JPT][hapmap]
rs12945908	0.81[ASN][1000 genomes]
rs12949267	0.95[JPT][hapmap]
rs1420904	0.84[YRI][hapmap]
rs1550828	0.95[JPT][hapmap]
rs1558168	0.95[JPT][hapmap]
rs15886	0.95[JPT][hapmap]
rs1860121	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4310935	0.95[JPT][hapmap]
rs4310936	0.95[JPT][hapmap]
rs475283	0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs476677	0.95[JPT][hapmap]
rs481876	0.94[JPT][hapmap]
rs486840	0.95[JPT][hapmap]
rs494946	0.95[JPT][hapmap]
rs531586	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs534645	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs544940	0.95[JPT][hapmap]
rs557491	0.95[JPT][hapmap]
rs568536	0.95[JPT][hapmap]
rs6501292	0.85[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6501313	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7213377	0.95[JPT][hapmap]
rs7222780	0.87[AMR][1000 genomes]
rs7223895	0.95[JPT][hapmap]
rs7225762	0.95[JPT][hapmap]
rs817121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs817126	1.00[JPT][hapmap]
rs817128	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9302893	0.83[AMR][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	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
2	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
3	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
4	nsv1055156	chr17:67239695-67272311	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
5	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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	nsv575935	chr17:67256162-67327806	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	nsv457890	chr17:67264339-67327806	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv575936	chr17:67264339-67327806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
9	nsv1063768	chr17:67268342-67311136	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67230800-67271800	Weak transcription	Pancreas	Pancrea
2	chr17:67235000-67289000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr17:67236000-67283000	Weak transcription	Ovary	ovary
4	chr17:67236400-67278000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr17:67236800-67280800	Weak transcription	Brain Angular Gyrus	brain
6	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
7	chr17:67238800-67278000	Weak transcription	Thymus	Thymus
8	chr17:67240000-67289200	Weak transcription	Esophagus	oesophagus
9	chr17:67240000-67296000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:67242400-67289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
13	chr17:67245800-67278000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:67248000-67284400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr17:67249000-67278400	Weak transcription	Fetal Intestine Small	intestine
16	chr17:67250000-67289200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:67250200-67280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:67250800-67277800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:67251200-67279000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr17:67251400-67272000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:67251400-67273000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr17:67251400-67277600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr17:67251400-67277800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr17:67251400-67278000	Weak transcription	Primary T cells from cord blood	blood
25	chr17:67251600-67274000	Weak transcription	GM12878-XiMat	blood
26	chr17:67251600-67278200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr17:67251600-67289200	Weak transcription	Brain Anterior Caudate	brain
28	chr17:67252400-67272400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr17:67253200-67278200	Weak transcription	Placenta	Placenta
30	chr17:67255600-67272000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr17:67257600-67278000	Weak transcription	Adipose Nuclei	Adipose
32	chr17:67259800-67271800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr17:67261000-67273000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:67261400-67279200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:67264800-67271800	Weak transcription	Fetal Intestine Large	intestine
37	chr17:67265000-67271800	Weak transcription	Left Ventricle	heart
38	chr17:67265000-67277600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr17:67265000-67289200	Weak transcription	Lung	lung
40	chr17:67265000-67289800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:67265600-67279000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr17:67265800-67277800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:67265800-67278000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:67266000-67278000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:67266000-67282400	Weak transcription	HMEC	breast
46	chr17:67266200-67272000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:67266200-67274000	Weak transcription	Liver	Liver
48	chr17:67266200-67277800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:67266200-67282000	Weak transcription	Hela-S3	cervix
50	chr17:67266200-67290000	Weak transcription	Fetal Heart	heart

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