Variant report

Variant	rs4323977
Chromosome Location	chr12:4615481-4615482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1029769	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444478	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10849083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849087	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10849089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849090	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849091	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11063177	0.83[EUR][1000 genomes]
rs11063179	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11063181	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11063182	0.97[EUR][1000 genomes]
rs11063187	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063188	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063189	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11063191	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11063193	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063194	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063195	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063196	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063197	1.00[ASN][1000 genomes]
rs11063198	0.83[ASN][1000 genomes]
rs11063199	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063202	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063206	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063207	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063213	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063214	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063217	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063220	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11063227	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs11063228	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs11063230	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12314323	0.91[ASN][1000 genomes]
rs12366731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367035	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907492	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2907494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970812	1.00[CEU][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970818	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4238020	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60388479	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61909580	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459910	0.81[ASN][1000 genomes]
rs73037770	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308641	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7314915	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7965755	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7972086	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs9971700	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971728	0.90[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4590800-4631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus
3	chr12:4593400-4628600	Weak transcription	Right Ventricle	heart
4	chr12:4594400-4646400	Weak transcription	NHLF	lung
5	chr12:4594800-4625400	Weak transcription	Psoas Muscle	Psoas
6	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:4595400-4628600	Weak transcription	A549	lung
8	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
9	chr12:4596400-4629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:4596600-4615600	Weak transcription	HepG2	liver
11	chr12:4596600-4618000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:4596600-4633400	Weak transcription	Hela-S3	cervix
13	chr12:4596600-4640400	Weak transcription	Brain Angular Gyrus	brain
14	chr12:4596800-4617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:4597400-4615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:4598200-4647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:4598400-4646800	Weak transcription	Fetal Brain Male	brain
18	chr12:4599200-4647200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:4603800-4616000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr12:4606200-4647200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:4608200-4615600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:4608200-4647200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:4608600-4616000	Weak transcription	Fetal Intestine Small	intestine
24	chr12:4608600-4625600	Weak transcription	Pancreas	Pancrea
25	chr12:4608600-4625800	Weak transcription	Aorta	Aorta
26	chr12:4608600-4628800	Weak transcription	Gastric	stomach
27	chr12:4608600-4629000	Weak transcription	Brain Germinal Matrix	brain
28	chr12:4608600-4629400	Weak transcription	Spleen	Spleen
29	chr12:4609000-4615600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:4609000-4616000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:4609000-4616000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:4609000-4616800	Weak transcription	Thymus	Thymus
33	chr12:4609000-4627200	Weak transcription	Lung	lung
34	chr12:4609000-4633400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:4609200-4615600	Weak transcription	GM12878-XiMat	blood
36	chr12:4609400-4617400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:4609600-4640400	Weak transcription	Fetal Kidney	kidney
38	chr12:4609600-4642400	Weak transcription	Brain Substantia Nigra	brain
39	chr12:4609800-4615600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:4609800-4640800	Weak transcription	Fetal Brain Female	brain
41	chr12:4610200-4617600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:4610800-4647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:4611200-4628800	Weak transcription	Fetal Stomach	stomach
44	chr12:4611200-4647000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:4611400-4627200	Weak transcription	Ovary	ovary
46	chr12:4611600-4625200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:4611600-4625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:4611600-4628800	Weak transcription	Brain Anterior Caudate	brain
49	chr12:4612400-4624400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:4612400-4627200	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links