Variant report

Variant	rs10482633
Chromosome Location	chr5:142750533-142750534
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:142750047..142752469-chr5:142777279..142779161,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10052957	0.85[GIH][hapmap]
rs10076665	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10482605	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10482642	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10482682	1.00[ASW][hapmap];0.92[YRI][hapmap]
rs10482689	1.00[ASW][hapmap];0.81[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10482700	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10515521	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11740747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11740792	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1438731	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17287758	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17339831	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.89[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1837262	0.84[GIH][hapmap]
rs1866388	0.85[GIH][hapmap]
rs258750	0.85[GIH][hapmap]
rs2918416	0.85[GIH][hapmap]
rs2918417	0.85[GIH][hapmap]
rs2963149	0.85[GIH][hapmap]
rs4128428	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6188	0.85[GIH][hapmap]
rs6198	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72801052	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72801070	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72801079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72801081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72801083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72801086	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72801088	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs852977	0.82[GIH][hapmap]
rs852982	0.82[GIH][hapmap]
rs860457	0.82[GIH][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	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10482633	NR3C1	Cis_1M	lymphoblastoid	RTeQTL
rs10482633	TAF7	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142725000-142764200	Weak transcription	Lung	lung
2	chr5:142734000-142756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:142734200-142754200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:142735600-142756000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:142735800-142751200	Weak transcription	HMEC	breast
6	chr5:142735800-142751800	Weak transcription	NHEK	skin
7	chr5:142736200-142755800	Weak transcription	Small Intestine	intestine
8	chr5:142736200-142756000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:142739400-142763600	Weak transcription	Thymus	Thymus
10	chr5:142739600-142754200	Weak transcription	Fetal Thymus	thymus
11	chr5:142740600-142752600	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:142740600-142755800	Weak transcription	Right Ventricle	heart
13	chr5:142740800-142752600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:142741400-142751400	Weak transcription	Hela-S3	cervix
15	chr5:142741400-142757000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:142741600-142771600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:142742000-142753600	Weak transcription	Osteobl	bone
18	chr5:142742600-142756200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:142742600-142762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:142742800-142755800	Weak transcription	Right Atrium	heart
21	chr5:142742800-142758800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:142743000-142756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:142743200-142764200	Weak transcription	HepG2	liver
24	chr5:142744000-142754000	Weak transcription	NHLF	lung
25	chr5:142744000-142762200	Weak transcription	K562	blood
26	chr5:142744200-142755800	Weak transcription	HSMM	muscle
27	chr5:142744200-142756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:142744400-142751800	Weak transcription	Fetal Lung	lung
29	chr5:142744600-142751800	Weak transcription	Ovary	ovary
30	chr5:142744600-142762400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:142745000-142751200	Weak transcription	Adipose Nuclei	Adipose
32	chr5:142745000-142752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:142745400-142755800	Weak transcription	Primary T cells from cord blood	blood
34	chr5:142745400-142764200	Weak transcription	Fetal Stomach	stomach
35	chr5:142745800-142751800	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:142745800-142756000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:142745800-142756000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:142746200-142752600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:142746200-142754200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:142746200-142756000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:142746200-142760000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:142746600-142752400	Strong transcription	Dnd41	blood
43	chr5:142747000-142755800	Weak transcription	Aorta	Aorta
44	chr5:142747400-142754200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:142747800-142762000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr5:142747800-142762200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:142748000-142751800	Weak transcription	Fetal Heart	heart
48	chr5:142748000-142754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:142748200-142751600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:142748200-142754600	Strong transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links