Variant report

Variant	rs398158
Chromosome Location	chr13:49006265-49006266
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs12584784	0.83[ASN][1000 genomes]
rs1547660	0.85[ASN][1000 genomes]
rs171988	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs171990	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs174857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1926595	0.85[ASN][1000 genomes]
rs1926597	0.85[ASN][1000 genomes]
rs198564	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs198569	0.81[AMR][1000 genomes]
rs198571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs198574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs198575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs198576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs198577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs198606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs198608	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs198609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs198614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs198622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs198623	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs198624	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs198627	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs198629	0.88[AFR][1000 genomes]
rs198630	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs198631	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2070752	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2274400	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs2804094	1.00[CEU][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.96[EUR][1000 genomes]
rs2804095	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854342	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2854348	0.91[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2854353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3092888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3092898	0.90[ASN][1000 genomes]
rs3092899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs3751380	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs403390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs406098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4151434	0.91[JPT][hapmap]
rs4151442	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4151448	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4151452	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4151456	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs4151474	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4151525	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs4151601	0.88[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs425834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs427686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs449268	0.80[YRI][hapmap]
rs58854758	0.85[ASN][1000 genomes]
rs61074776	0.85[ASN][1000 genomes]
rs6561448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6561457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6561461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6561465	1.00[CEU][hapmap]
rs7325962	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7329039	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7329865	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs73486867	0.85[ASN][1000 genomes]
rs73495016	0.97[ASN][1000 genomes]
rs74075993	0.80[ASN][1000 genomes]
rs7985825	0.85[ASN][1000 genomes]
rs7992129	0.85[ASN][1000 genomes]
rs7995216	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7996186	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs7996402	0.85[ASN][1000 genomes]
rs7998781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8001241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8002565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9316385	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9316401	0.85[ASN][1000 genomes]
rs9331965	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs9331973	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs9332054	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs9332278	1.00[CEU][hapmap]
rs9591172	0.85[ASN][1000 genomes]
rs9591177	0.83[ASN][1000 genomes]
rs9591178	0.85[ASN][1000 genomes]
rs9595931	1.00[CEU][hapmap]

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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48987600-49010400	Weak transcription	Psoas Muscle	Psoas
2	chr13:48987800-49006400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:48990800-49011600	Weak transcription	Left Ventricle	heart
4	chr13:48990800-49030800	Weak transcription	Ovary	ovary
5	chr13:48991400-49010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:48991400-49013200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr13:48991400-49018600	Weak transcription	Thymus	Thymus
8	chr13:48991400-49019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:48991400-49030600	Weak transcription	Spleen	Spleen
10	chr13:48991600-49010800	Weak transcription	Fetal Stomach	stomach
11	chr13:48991800-49010000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr13:48991800-49018800	Weak transcription	Fetal Thymus	thymus
13	chr13:48994800-49018000	Weak transcription	Primary B cells from cord blood	blood
14	chr13:48996600-49010400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr13:48997800-49011200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr13:48999000-49024400	Weak transcription	Fetal Muscle Leg	muscle
17	chr13:49001200-49009600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr13:49001200-49009800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr13:49001400-49010600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:49001400-49022400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:49001400-49024600	Weak transcription	Fetal Intestine Small	intestine
22	chr13:49003000-49007000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr13:49003000-49012600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr13:49003600-49006600	Weak transcription	Esophagus	oesophagus
25	chr13:49003600-49008800	Weak transcription	Lung	lung
26	chr13:49003600-49011600	Weak transcription	Pancreas	Pancrea
27	chr13:49003600-49023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr13:49004800-49006400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr13:49005000-49007000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:49005000-49007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:49005200-49006600	Enhancers	Adipose Nuclei	Adipose
32	chr13:49005200-49006800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr13:49005200-49006800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:49005200-49007000	Enhancers	Primary T cells from cord blood	blood
35	chr13:49005200-49007000	Enhancers	Osteobl	bone
36	chr13:49005400-49006800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr13:49005400-49006800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr13:49005400-49006800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr13:49005400-49006800	Enhancers	NHLF	lung
40	chr13:49005400-49007000	Enhancers	Primary hematopoietic stem cells	blood
41	chr13:49005400-49007800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr13:49005400-49007800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr13:49005600-49006600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr13:49005600-49006600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr13:49005600-49006600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:49005600-49006600	Enhancers	Brain Hippocampus Middle	brain
47	chr13:49005600-49006800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:49005600-49006800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:49005600-49006800	Enhancers	Brain Cingulate Gyrus	brain
50	chr13:49005600-49006800	Enhancers	HMEC	breast

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