Variant report

Variant	rs2068147
Chromosome Location	chr6:131221902-131221903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12193574	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526896	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12530288	0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12664445	0.87[ASN][1000 genomes]
rs2183967	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs2275509	0.91[ASN][1000 genomes]
rs3777434	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs3777435	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs3777436	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs3777440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777442	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3777455	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777458	0.91[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs3777461	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777462	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777465	0.90[ASN][1000 genomes]
rs3777466	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3798249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3798250	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822861	0.93[ASN][1000 genomes]
rs3822863	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4323333	0.99[ASN][1000 genomes]
rs4357159	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4897468	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs4897471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4897474	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569707	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs6569708	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs6569715	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6908917	0.84[CHD][hapmap]
rs6919007	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs6941712	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7742376	0.84[CHD][hapmap]
rs7760965	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7763584	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7773290	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775013	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs9321257	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9321260	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs933063	0.91[JPT][hapmap]
rs9375779	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375781	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375782	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375783	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9375785	0.84[CHD][hapmap]
rs9375789	0.82[CHD][hapmap]
rs9388861	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs9388863	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs9388864	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9388869	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9398967	0.81[CHD][hapmap]
rs9402292	0.82[CHB][hapmap]
rs9402299	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9483185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9483192	0.97[ASN][1000 genomes]
rs9483201	0.80[ASN][1000 genomes]
rs9492755	0.95[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs9492756	0.89[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2068147	VNN3	cis	parietal	SCAN
rs2068147	ARG1	cis	cerebellum	SCAN
rs2068147	EPB41L2	cis	parietal	SCAN
rs2068147	ALDH8A1	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131159000-131229000	Weak transcription	Colonic Mucosa	Colon
2	chr6:131171200-131223200	Weak transcription	Right Ventricle	heart
3	chr6:131175000-131222400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:131179400-131222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:131187000-131223200	Weak transcription	Gastric	stomach
6	chr6:131190400-131227000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:131190800-131224200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:131191000-131234400	Weak transcription	Esophagus	oesophagus
9	chr6:131191200-131224200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:131191200-131233000	Weak transcription	Spleen	Spleen
11	chr6:131194200-131222000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:131195800-131224200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:131198600-131224200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:131201000-131222400	Strong transcription	Dnd41	blood
15	chr6:131201800-131222000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:131203600-131234200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:131204400-131228600	Weak transcription	Stomach Mucosa	stomach
18	chr6:131205200-131222000	Weak transcription	A549	lung
19	chr6:131208000-131222000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:131209000-131234000	Weak transcription	Fetal Thymus	thymus
21	chr6:131209600-131222000	Weak transcription	HMEC	breast
22	chr6:131209800-131228000	Weak transcription	HUVEC	blood vessel
23	chr6:131210800-131222400	Strong transcription	HepG2	liver
24	chr6:131211000-131228400	Weak transcription	Small Intestine	intestine
25	chr6:131211200-131222000	Weak transcription	NHEK	skin
26	chr6:131211200-131234000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:131211400-131224000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:131211400-131234200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:131212000-131224600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr6:131212200-131222000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:131213400-131223400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:131213600-131232200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:131215000-131224200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:131215000-131228800	Weak transcription	Liver	Liver
35	chr6:131215200-131222000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:131215200-131222400	Strong transcription	Fetal Muscle Leg	muscle
37	chr6:131215200-131234000	Weak transcription	Primary T cells from cord blood	blood
38	chr6:131215200-131234200	Weak transcription	Thymus	Thymus
39	chr6:131215400-131223400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:131215400-131223800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:131215400-131238200	Weak transcription	Aorta	Aorta
42	chr6:131215600-131223200	Weak transcription	Lung	lung
43	chr6:131215600-131223400	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:131215600-131228600	Weak transcription	Fetal Intestine Small	intestine
45	chr6:131215600-131233800	Weak transcription	Pancreas	Pancrea
46	chr6:131215800-131228400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:131216600-131222000	Weak transcription	Left Ventricle	heart
48	chr6:131216600-131223800	Weak transcription	Fetal Kidney	kidney
49	chr6:131216600-131233800	Weak transcription	Ovary	ovary
50	chr6:131216800-131224200	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links