Variant report

Variant	rs403390
Chromosome Location	chr13:49016644-49016645
allele	C/G
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	0.80[ASN][1000 genomes]
rs1547660	0.88[ASN][1000 genomes]
rs171988	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171990	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs174857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1926595	0.88[ASN][1000 genomes]
rs1926597	0.88[ASN][1000 genomes]
rs198564	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs198568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs198575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs198576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs198577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs198606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs198608	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs198609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs198622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs198623	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs198624	0.98[AFR][1000 genomes]
rs198627	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs198629	0.85[AFR][1000 genomes]
rs198630	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs198631	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2070752	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2274400	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs2515669	0.81[AFR][1000 genomes]
rs2804094	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2804095	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854342	1.00[CEU][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2854348	0.91[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2854353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3092888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3092898	0.93[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];0.85[ASN][1000 genomes]
rs398158	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];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][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];0.81[JPT][hapmap]
rs4151474	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4151525	0.88[CHB][hapmap];0.91[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];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs427686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs449268	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs58854758	0.85[ASN][1000 genomes]
rs61074776	0.88[ASN][1000 genomes]
rs6561448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6561457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6561461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6561465	1.00[CEU][hapmap]
rs7325962	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7329039	0.88[ASN][1000 genomes]
rs7329865	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs7331851	0.81[JPT][hapmap]
rs73486867	0.88[ASN][1000 genomes]
rs73495016	1.00[ASN][1000 genomes]
rs7985825	0.88[ASN][1000 genomes]
rs7992129	0.88[ASN][1000 genomes]
rs7995216	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7996186	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs7996402	0.88[ASN][1000 genomes]
rs7998781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8001241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8002565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9316385	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9316401	0.88[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	0.88[ASN][1000 genomes]
rs9591177	0.87[ASN][1000 genomes]
rs9591178	0.88[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48990800-49030800	Weak transcription	Ovary	ovary
2	chr13:48991400-49018600	Weak transcription	Thymus	Thymus
3	chr13:48991400-49019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:48991400-49030600	Weak transcription	Spleen	Spleen
5	chr13:48991800-49018800	Weak transcription	Fetal Thymus	thymus
6	chr13:48994800-49018000	Weak transcription	Primary B cells from cord blood	blood
7	chr13:48999000-49024400	Weak transcription	Fetal Muscle Leg	muscle
8	chr13:49001400-49022400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:49001400-49024600	Weak transcription	Fetal Intestine Small	intestine
10	chr13:49003600-49023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:49006000-49018000	Weak transcription	Dnd41	blood
12	chr13:49006400-49018800	Weak transcription	GM12878-XiMat	blood
13	chr13:49006800-49020200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:49006800-49020400	Weak transcription	HSMMtube	muscle
15	chr13:49006800-49020800	Weak transcription	Hela-S3	cervix
16	chr13:49006800-49030400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:49007000-49027600	Weak transcription	Primary T cells from cord blood	blood
18	chr13:49008000-49028600	Weak transcription	HepG2	liver
19	chr13:49008800-49030800	Weak transcription	Placenta	Placenta
20	chr13:49009000-49030600	Weak transcription	Gastric	stomach
21	chr13:49009000-49030600	Weak transcription	Lung	lung
22	chr13:49010800-49017800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:49010800-49017800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr13:49011200-49028800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:49011400-49017800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr13:49011400-49022800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr13:49011800-49017200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr13:49011800-49020400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:49011800-49023600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr13:49012000-49016800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:49012000-49017400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:49012000-49018000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:49012000-49018000	Weak transcription	Fetal Stomach	stomach
34	chr13:49012000-49018600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr13:49012000-49019400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr13:49012000-49019800	Weak transcription	HUVEC	blood vessel
37	chr13:49012000-49020200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr13:49012000-49020200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:49012000-49020400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:49012000-49020400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:49012000-49020400	Weak transcription	NHLF	lung
42	chr13:49012000-49020400	Weak transcription	Osteobl	bone
43	chr13:49012000-49020600	Weak transcription	HSMM	muscle
44	chr13:49012000-49020800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr13:49012000-49022400	Weak transcription	Brain Anterior Caudate	brain
46	chr13:49012000-49022800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:49012000-49023400	Weak transcription	Small Intestine	intestine
48	chr13:49012000-49027400	Weak transcription	Left Ventricle	heart
49	chr13:49012000-49028800	Weak transcription	Pancreas	Pancrea
50	chr13:49012200-49017800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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