Variant report

Variant	rs947343
Chromosome Location	chr1:94204452-94204453
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94203575..94205213-chr1:94206735..94208348,2	K562	blood:
2	chr1:94199457..94202418-chr1:94202668..94205651,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10874797	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11164970	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11164973	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164974	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884019	0.89[CEU][hapmap];0.90[YRI][hapmap];0.89[EUR][1000 genomes]
rs1980083	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs2092700	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2747036	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2747037	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2747038	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2747040	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2747042	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2747044	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2747047	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2747049	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2818161	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2818165	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2818166	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2818167	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4520428	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847192	0.89[EUR][1000 genomes]
rs4847254	0.96[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4847257	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6541399	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6660210	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6667986	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6703684	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7523787	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs7552293	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9651128	0.86[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs947343	RP11-488P3.1	cis	Muscle Skeletal	GTEx
rs947343	DNTTIP2	Cis_1M	lymphoblastoid	RTeQTL
rs947343	RP11-488P3.1	cis	Esophagus Muscularis	GTEx
rs947343	RP11-488P3.1	cis	Skin Sun Exposed Lower leg	GTEx
rs947343	RP11-488P3.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94196200-94205800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:94197600-94205800	Weak transcription	Spleen	Spleen
3	chr1:94197800-94205800	Weak transcription	Right Atrium	heart
4	chr1:94199000-94207000	Enhancers	HSMM	muscle
5	chr1:94199400-94205800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:94199400-94217400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:94199600-94204800	Enhancers	Osteobl	bone
8	chr1:94200200-94204800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:94200200-94207000	Enhancers	NHDF-Ad	bronchial
10	chr1:94200400-94206000	Enhancers	HMEC	breast
11	chr1:94200600-94205400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:94200800-94205800	Weak transcription	HepG2	liver
13	chr1:94201200-94206200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:94202200-94205000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:94202600-94206800	Enhancers	NHLF	lung
16	chr1:94203000-94205000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:94203000-94205000	Enhancers	NH-A	brain
18	chr1:94203000-94206800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:94203200-94204800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:94203200-94206800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:94203400-94204800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:94203400-94206600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:94203400-94206800	Enhancers	Placenta	Placenta
24	chr1:94203600-94204800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:94203600-94204800	Enhancers	A549	lung
26	chr1:94203600-94206800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:94203800-94204800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:94203800-94204800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:94203800-94207000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:94203800-94207000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:94204000-94204800	Enhancers	Lung	lung
32	chr1:94204000-94206000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:94204000-94206200	Enhancers	NHEK	skin
34	chr1:94204000-94207000	Enhancers	Adipose Nuclei	Adipose
35	chr1:94204000-94207000	Enhancers	Fetal Muscle Leg	muscle
36	chr1:94204000-94208200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:94204200-94205000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:94204400-94204800	Flanking Active TSS	HSMMtube	muscle
39	chr1:94204400-94206800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:94204400-94206800	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links