Variant report

Variant	rs17317514
Chromosome Location	chr5:14776923-14776924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14774249..14779166-chr5:14785300..14788951,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1004673	0.92[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs13175317	0.82[EUR][1000 genomes]
rs1374080	0.96[CEU][hapmap];0.88[CHD][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs1550826	0.92[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs166298	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17251715	0.96[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17251763	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];1.00[ASN][1000 genomes]
rs17266101	0.84[EUR][1000 genomes]
rs2401985	0.84[EUR][1000 genomes]
rs2454873	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs258221	0.88[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs258223	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs258229	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs31916	0.84[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap]
rs33101	0.84[EUR][1000 genomes]
rs35554212	0.84[EUR][1000 genomes]
rs35842463	0.84[EUR][1000 genomes]
rs368503	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs398961	0.85[CHD][hapmap];0.86[JPT][hapmap]
rs40970	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55954907	0.85[EUR][1000 genomes]
rs61169618	0.85[EUR][1000 genomes]
rs6884206	0.83[ASN][1000 genomes]
rs706292	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs7715323	0.89[CHB][hapmap];0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17317514	ANKH	cis	parietal	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
2	chr5:14746000-14790200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:14753400-14777000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:14753600-14790000	Weak transcription	Ovary	ovary
5	chr5:14753600-14801600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:14756800-14779000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:14756800-14780200	Weak transcription	Fetal Stomach	stomach
8	chr5:14756800-14781200	Weak transcription	Thymus	Thymus
9	chr5:14758800-14783800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:14759200-14790200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:14761000-14777800	Weak transcription	HSMMtube	muscle
12	chr5:14766600-14780000	Weak transcription	Fetal Intestine Large	intestine
13	chr5:14767400-14809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:14768400-14789800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:14768600-14779400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:14768600-14790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:14768600-14790200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr5:14768600-14790200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:14768600-14790200	Weak transcription	Dnd41	blood
20	chr5:14768800-14779000	Weak transcription	Primary T cells from cord blood	blood
21	chr5:14769000-14780800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:14769200-14789400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:14769400-14778800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:14769400-14790600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:14769400-14790600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:14770200-14777600	Weak transcription	Fetal Brain Male	brain
27	chr5:14771600-14777400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:14772600-14778000	Enhancers	HepG2	liver
29	chr5:14773800-14777800	Weak transcription	Aorta	Aorta
30	chr5:14773800-14778000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:14774000-14778200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:14774000-14780800	Weak transcription	Brain Angular Gyrus	brain
33	chr5:14774200-14777600	Weak transcription	Fetal Brain Female	brain
34	chr5:14774200-14777800	Enhancers	A549	lung
35	chr5:14774400-14778200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:14775200-14779800	Strong transcription	Fetal Intestine Small	intestine
37	chr5:14775400-14777200	Enhancers	Stomach Mucosa	stomach
38	chr5:14775600-14777200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr5:14775600-14778400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:14775600-14779600	Enhancers	Left Ventricle	heart
41	chr5:14775600-14783800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:14775800-14777000	Enhancers	Brain Hippocampus Middle	brain
43	chr5:14775800-14777000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:14775800-14777000	Enhancers	Psoas Muscle	Psoas
45	chr5:14775800-14777000	Enhancers	Right Atrium	heart
46	chr5:14775800-14777600	Weak transcription	Liver	Liver
47	chr5:14775800-14777800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:14776000-14777000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr5:14776000-14777000	Enhancers	Brain Cingulate Gyrus	brain
50	chr5:14776000-14777000	Enhancers	Brain Substantia Nigra	brain

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