Variant report

Variant	rs2070845
Chromosome Location	chr10:91066075-91066076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10509572	0.81[CEU][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes]
rs11203063	0.95[CEU][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11203066	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11203070	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11203072	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11203090	0.87[AMR][1000 genomes]
rs11203099	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11819073	0.87[AMR][1000 genomes]
rs12244233	0.81[CEU][hapmap]
rs12248331	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12255504	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12772449	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1332330	0.86[CEU][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1591051	0.82[CEU][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17120001	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17120004	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs303212	0.80[YRI][hapmap]
rs34032344	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34234196	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34712773	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35830608	0.87[AMR][1000 genomes]
rs3740027	0.90[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3780878	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6586182	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6586183	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6586196	0.81[CEU][hapmap]
rs7073534	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7085361	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7088579	0.81[CEU][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes]
rs7090346	0.81[CEU][hapmap]
rs71479013	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7897619	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7897873	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7910389	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7916812	0.81[CEU][hapmap]
rs884407	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9733018	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2070845	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs2070845	IFIT5	cis	multi-tissue	Pritchard

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91055800-91070000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:91063200-91066400	Weak transcription	Fetal Heart	heart
3	chr10:91063200-91066600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:91063200-91066800	Weak transcription	Osteobl	bone
5	chr10:91063200-91067000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:91063200-91074600	Weak transcription	Fetal Intestine Small	intestine
7	chr10:91063200-91076000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:91063400-91068600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:91063400-91069800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:91063400-91072600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:91063800-91066800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:91063800-91067800	Weak transcription	Stomach Mucosa	stomach
13	chr10:91063800-91068200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:91063800-91069200	Weak transcription	Esophagus	oesophagus
15	chr10:91063800-91069200	Weak transcription	Pancreas	Pancrea
16	chr10:91063800-91069200	Weak transcription	Right Atrium	heart
17	chr10:91063800-91070400	Weak transcription	Fetal Kidney	kidney
18	chr10:91063800-91074200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr10:91064000-91072800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:91064200-91066200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr10:91064200-91067800	Weak transcription	Small Intestine	intestine
22	chr10:91064200-91086600	Weak transcription	Hela-S3	cervix
23	chr10:91065200-91067600	Enhancers	HSMM	muscle
24	chr10:91065400-91066600	Genic enhancers	Brain Angular Gyrus	brain
25	chr10:91065400-91066800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr10:91065400-91067800	Enhancers	HSMMtube	muscle
27	chr10:91065400-91068800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr10:91065400-91069800	Strong transcription	Primary B cells from cord blood	blood
29	chr10:91065600-91066200	Strong transcription	Placenta	Placenta
30	chr10:91065600-91066400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr10:91065600-91066400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr10:91065600-91066400	Genic enhancers	Brain Anterior Caudate	brain
33	chr10:91065600-91066600	Strong transcription	Fetal Thymus	thymus
34	chr10:91065600-91067000	Genic enhancers	Brain Hippocampus Middle	brain
35	chr10:91065600-91067200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr10:91065600-91067400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr10:91065600-91067400	Enhancers	Fetal Brain Male	brain
38	chr10:91065600-91067800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr10:91065600-91067800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr10:91065600-91067800	Strong transcription	Fetal Lung	lung
41	chr10:91065600-91068000	Strong transcription	Primary T cells from cord blood	blood
42	chr10:91065600-91068400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr10:91065600-91069200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr10:91065600-91069400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr10:91065600-91069400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr10:91065600-91069400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr10:91065800-91066200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr10:91065800-91066200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:91065800-91066200	Strong transcription	Fetal Intestine Large	intestine
50	chr10:91065800-91066200	ZNF genes & repeats	GM12878-XiMat	blood

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