Variant report

Variant	rs7560318
Chromosome Location	chr2:191303986-191303987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191303601..191305161-chr2:191699632..191702385,2	MCF-7	breast:
2	chr2:191302906..191304417-chr2:191305140..191306765,2	K562	blood:
3	chr2:191302915..191305261-chr2:191313085..191315197,2	K562	blood:
4	chr2:191300907..191304417-chr2:191304488..191309004,4	K562	blood:

Variant related genes	Relation type
ENSG00000151690	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11897266	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12464923	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12472240	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12473460	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12613365	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12615925	0.87[EUR][1000 genomes]
rs12619125	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12619560	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12621493	0.80[EUR][1000 genomes]
rs12622496	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12693576	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12987797	0.85[EUR][1000 genomes]
rs13013848	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13019278	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13028201	0.95[CEU][hapmap];0.82[CHD][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs13029743	0.84[EUR][1000 genomes]
rs13391723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2043990	0.82[CEU][hapmap];0.81[ASN][1000 genomes]
rs34274882	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34417560	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34825614	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36055519	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3811609	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4073873	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4129081	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4129697	0.83[AFR][1000 genomes]
rs4264585	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4324342	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4853508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853708	0.95[LWK][hapmap];0.83[AFR][1000 genomes]
rs4853709	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4853718	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4853720	0.85[EUR][1000 genomes]
rs55754136	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55987230	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434400	0.87[EUR][1000 genomes]
rs6707773	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6707846	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6711006	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72911109	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7564829	0.82[YRI][hapmap]
rs7601745	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7608180	0.95[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs9646748	0.83[ASW][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7560318	INPP1	cis	parietal	SCAN
rs7560318	HIBCH	cis	parietal	SCAN
rs7560318	HIBCH	cis	cerebellum	SCAN
rs7560318	FLJ20160	cis	multi-tissue	Pritchard

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191284200-191311000	Weak transcription	Psoas Muscle	Psoas
2	chr2:191296800-191311400	Weak transcription	Fetal Lung	lung
3	chr2:191297200-191306200	Weak transcription	K562	blood
4	chr2:191297400-191305600	Weak transcription	Small Intestine	intestine
5	chr2:191298400-191304600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:191298400-191306000	Weak transcription	Fetal Kidney	kidney
7	chr2:191298600-191309000	Weak transcription	Stomach Mucosa	stomach
8	chr2:191299400-191304000	Weak transcription	Placenta	Placenta
9	chr2:191299600-191308800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:191299800-191305600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:191300600-191305000	Strong transcription	Primary B cells from cord blood	blood
12	chr2:191300800-191304400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:191301000-191306000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:191301200-191307000	Weak transcription	Fetal Heart	heart
15	chr2:191301600-191304800	Weak transcription	HepG2	liver
16	chr2:191301800-191305800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:191302000-191304000	Weak transcription	Adipose Nuclei	Adipose
18	chr2:191302000-191304200	Weak transcription	GM12878-XiMat	blood
19	chr2:191302000-191305600	Weak transcription	Brain Substantia Nigra	brain
20	chr2:191302000-191307800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:191302200-191304000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:191302200-191305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:191302200-191305600	Weak transcription	Gastric	stomach
24	chr2:191302200-191305600	Weak transcription	Left Ventricle	heart
25	chr2:191302200-191305600	Weak transcription	Lung	lung
26	chr2:191302200-191305600	Weak transcription	Pancreas	Pancrea
27	chr2:191302200-191305600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:191302200-191306000	Weak transcription	Spleen	Spleen
29	chr2:191302200-191307200	Weak transcription	Aorta	Aorta
30	chr2:191302200-191307200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:191302200-191308400	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:191302200-191311200	Weak transcription	Fetal Stomach	stomach
33	chr2:191302200-191311400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:191302200-191319200	Weak transcription	Fetal Intestine Small	intestine
35	chr2:191302200-191321200	Weak transcription	Esophagus	oesophagus
36	chr2:191302400-191304400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:191302400-191304600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:191302400-191306400	Weak transcription	Right Ventricle	heart
39	chr2:191302400-191307200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:191302400-191307400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:191302400-191308400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:191302400-191331000	Weak transcription	A549	lung
43	chr2:191302600-191304400	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:191302600-191304600	Weak transcription	Brain Angular Gyrus	brain
45	chr2:191302600-191304800	Weak transcription	Brain Anterior Caudate	brain
46	chr2:191302600-191307000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:191302600-191309000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:191302600-191309400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:191302600-191310600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:191302600-191311000	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links