Variant report

Variant	rs17151466
Chromosome Location	chr7:127506080-127506081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127504525..127507038-chr7:127512709..127514558,2	MCF-7	breast:
2	chr7:127494426..127496522-chr7:127505539..127507746,2	K562	blood:
3	chr7:127505544..127508080-chr7:127509583..127511619,2	K562	blood:
4	chr7:127498109..127501021-chr7:127504531..127508086,4	K562	blood:

Variant related genes	Relation type
ENSG00000240579	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10251423	0.82[AFR][1000 genomes]
rs1029927	0.88[AFR][1000 genomes]
rs10487499	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487502	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155421	1.00[ASN][1000 genomes]
rs12375023	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532894	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534918	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540357	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706816	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12706820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706822	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706823	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221709	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227201	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236338	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236900	0.83[ASW][hapmap]
rs13238924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345283	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348103	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362898	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419970	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.99[EUR][1000 genomes]
rs17151488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151507	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151639	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs17151653	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151668	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151682	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17151707	0.81[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs17676654	1.00[ASN][1000 genomes]
rs1860934	0.87[AFR][1000 genomes]
rs325440	0.85[AFR][1000 genomes]
rs325445	0.85[AFR][1000 genomes]
rs325447	0.85[AFR][1000 genomes]
rs325451	0.87[AFR][1000 genomes]
rs327508	1.00[ASN][1000 genomes]
rs34026100	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34688920	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34839191	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35154268	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660964	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779530	0.85[AFR][1000 genomes]
rs41464647	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap]
rs55660321	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58406876	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489175	1.00[ASN][1000 genomes]
rs6467157	1.00[CHB][hapmap];0.85[GIH][hapmap];0.93[MEX][hapmap];1.00[ASN][1000 genomes]
rs67632185	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948605	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953231	1.00[CHB][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs6959487	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962635	1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs6968199	0.81[AFR][1000 genomes]
rs73232968	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232972	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234873	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73234874	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238078	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs741094	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458839	0.99[EUR][1000 genomes]
rs7785596	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805021	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809182	1.00[CEU][hapmap];0.85[GIH][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes]
rs7810024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894062	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917832	0.87[AFR][1000 genomes]
rs9649027	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649512	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972088	0.83[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17151466	GPR37	cis	cerebellum	SCAN
rs17151466	HYAL4	cis	cerebellum	SCAN
rs17151466	ARF5	cis	cerebellum	SCAN
rs17151466	SND1	cis	Artery Tibial	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127485000-127512000	Weak transcription	Aorta	Aorta
2	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
4	chr7:127485800-127515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:127488200-127516400	Weak transcription	HMEC	breast
6	chr7:127488600-127510000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:127488600-127515400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:127489600-127508000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:127490200-127512200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:127490400-127506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:127491200-127512200	Weak transcription	A549	lung
12	chr7:127491400-127515400	Weak transcription	NH-A	brain
13	chr7:127491400-127527800	Weak transcription	Liver	Liver
14	chr7:127492000-127507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:127494000-127515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:127496600-127519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:127498400-127509000	Weak transcription	Left Ventricle	heart
18	chr7:127498600-127525000	Weak transcription	Fetal Intestine Small	intestine
19	chr7:127498800-127509200	Weak transcription	Right Ventricle	heart
20	chr7:127498800-127513400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:127498800-127519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:127498800-127521800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:127498800-127524600	Weak transcription	Gastric	stomach
24	chr7:127498800-127525600	Weak transcription	Fetal Stomach	stomach
25	chr7:127499000-127512400	Weak transcription	Fetal Intestine Large	intestine
26	chr7:127499600-127511600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:127500200-127521800	Weak transcription	Pancreas	Pancrea
28	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:127500400-127515000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:127500400-127527800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:127500400-127527800	Weak transcription	Dnd41	blood
32	chr7:127500400-127528000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:127500600-127508000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:127500600-127515000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:127500600-127517400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:127500600-127527400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:127501000-127527800	Weak transcription	Fetal Thymus	thymus
38	chr7:127502600-127506800	Strong transcription	K562	blood
39	chr7:127503000-127513800	Weak transcription	Fetal Lung	lung
40	chr7:127503000-127524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:127503400-127510200	Weak transcription	Psoas Muscle	Psoas
42	chr7:127503400-127517600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:127503600-127506400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:127503800-127508200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:127504000-127507200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:127504200-127506400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:127504400-127506400	Enhancers	NHDF-Ad	bronchial
48	chr7:127504400-127506800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:127504600-127522000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:127504800-127506200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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