Variant report

Variant	rs17007484
Chromosome Location	chr4:124762079-124762080
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10518305	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518306	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.88[ASN][1000 genomes]
rs1368509	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17007499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007509	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007553	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17425479	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17425951	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17491837	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492080	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4340803	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58148580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58208464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58498049	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58530613	0.88[ASN][1000 genomes]
rs6821590	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17007484	TRPC3	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124752400-124764800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:124752400-124769000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:124754800-124762800	Weak transcription	Aorta	Aorta
4	chr4:124758400-124763400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:124758400-124769000	Weak transcription	Left Ventricle	heart
6	chr4:124758600-124764000	Weak transcription	NH-A	brain
7	chr4:124758600-124765400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:124760000-124763600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:124760000-124763800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:124760400-124764000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:124760600-124762200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr4:124760800-124763200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:124761000-124763000	Enhancers	Colon Smooth Muscle	Colon
14	chr4:124761000-124763200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:124761000-124764200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:124761200-124762800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:124761200-124762800	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:124761200-124762800	Weak transcription	Psoas Muscle	Psoas
19	chr4:124761200-124763600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:124761400-124762400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:124761400-124762600	Weak transcription	NHDF-Ad	bronchial
22	chr4:124761400-124763000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:124761800-124762800	Weak transcription	Fetal Stomach	stomach
24	chr4:124761800-124764000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:124761800-124764200	Weak transcription	NHLF	lung

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