Variant report

Variant	rs10512527
Chromosome Location	chr17:67321498-67321499
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:67319063..67338122-chr17:73766152..73783684,87	MCF-7	breast:
2	chr17:67321326..67323057-chr17:73804111..73806636,2	MCF-7	breast:
3	chr17:67320335..67330619-chr17:73766697..73778324,31	MCF-7	breast:
4	chr17:67321198..67325432-chr17:73812405..73817349,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263565	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000266980	Chromatin interaction
ENSG00000132478	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1011549	0.83[ASN][1000 genomes]
rs10512526	0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11077445	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs112914	1.00[JPT][hapmap]
rs11649744	0.84[ASN][1000 genomes]
rs11650658	0.85[ASN][1000 genomes]
rs11650955	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11652207	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11654323	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11656389	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11656456	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12449649	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs12450167	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12450522	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs12450743	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12452340	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12937947	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12938064	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12938097	0.81[ASN][1000 genomes]
rs12940364	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12941297	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12942867	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12943504	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs12944980	0.83[ASN][1000 genomes]
rs12945481	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12946776	0.83[ASN][1000 genomes]
rs12949267	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468513	0.96[CEU][hapmap]
rs1550828	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1558168	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs15886	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1990248	0.82[EUR][1000 genomes]
rs2441358	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34985085	0.84[ASN][1000 genomes]
rs4310935	0.84[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4310936	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs471193	0.95[JPT][hapmap]
rs475283	0.95[JPT][hapmap]
rs476677	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs481876	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs486840	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs488714	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs494946	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs523505	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs531586	0.94[JPT][hapmap]
rs534645	1.00[JPT][hapmap]
rs544940	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs557491	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs568536	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6501313	1.00[JPT][hapmap]
rs7213377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223895	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7225762	0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs817121	1.00[JPT][hapmap]
rs817126	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs817127	0.86[EUR][1000 genomes];0.85[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	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	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
5	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
6	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
7	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
8	nsv908706	chr17:67290840-67332355	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
9	nsv575937	chr17:67304447-67327806	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
2	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:67291800-67321800	Weak transcription	Esophagus	oesophagus
4	chr17:67297000-67321800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr17:67304200-67321800	Weak transcription	HUVEC	blood vessel
6	chr17:67305200-67321600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:67306000-67321800	Weak transcription	Placenta	Placenta
8	chr17:67307000-67321800	Weak transcription	Left Ventricle	heart
9	chr17:67307000-67321800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:67307200-67321800	Weak transcription	Thymus	Thymus
11	chr17:67311000-67322000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:67311200-67321800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr17:67311200-67322000	Weak transcription	Brain Anterior Caudate	brain
14	chr17:67314000-67321600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr17:67314200-67321600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:67316400-67321800	Weak transcription	Osteobl	bone
17	chr17:67316800-67321800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:67317000-67321600	Weak transcription	NHDF-Ad	bronchial
19	chr17:67319000-67321600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr17:67319200-67321600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:67319800-67322600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:67320200-67321600	Enhancers	HepG2	liver
23	chr17:67320400-67321600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:67320400-67322400	Enhancers	Small Intestine	intestine
25	chr17:67320600-67321800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:67320600-67321800	Weak transcription	Hela-S3	cervix
27	chr17:67320600-67323800	Active TSS	GM12878-XiMat	blood
28	chr17:67320800-67321600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:67320800-67321600	Enhancers	Adipose Nuclei	Adipose
30	chr17:67320800-67321600	Weak transcription	Gastric	stomach
31	chr17:67320800-67321600	Enhancers	NHEK	skin
32	chr17:67320800-67321800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr17:67320800-67321800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:67321000-67321600	Weak transcription	Brain Angular Gyrus	brain
35	chr17:67321000-67321800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr17:67321200-67321600	Enhancers	Duodenum Mucosa	Duodenum
37	chr17:67321200-67321800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr17:67321200-67321800	Enhancers	Right Atrium	heart
39	chr17:67321200-67322000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:67321200-67322200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr17:67321400-67321600	Enhancers	Liver	Liver
42	chr17:67321400-67321600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr17:67321400-67321800	Enhancers	Fetal Heart	heart
44	chr17:67321400-67321800	Weak transcription	Pancreas	Pancrea
45	chr17:67321400-67322000	Flanking Active TSS	HMEC	breast
46	chr17:67321400-67322200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:67321400-67322400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr17:67321400-67322400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr17:67321400-67323600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:67321400-67323600	Active TSS	Fetal Intestine Small	intestine

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