Variant report

Variant	rs17007477
Chromosome Location	chr4:124755467-124755468
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10009328	0.83[EUR][1000 genomes]
rs10024439	0.90[EUR][1000 genomes]
rs10028801	0.87[EUR][1000 genomes]
rs17007263	0.89[CEU][hapmap]
rs17007438	0.90[EUR][1000 genomes]
rs17424031	0.89[CEU][hapmap]
rs17491036	0.93[EUR][1000 genomes]
rs28525441	1.00[ASN][1000 genomes]
rs28530617	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28706352	0.87[EUR][1000 genomes]
rs41375145	0.90[EUR][1000 genomes]
rs55665660	1.00[ASN][1000 genomes]
rs61243353	0.83[EUR][1000 genomes]
rs66477141	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66822580	0.83[EUR][1000 genomes]
rs67700439	1.00[ASN][1000 genomes]
rs6819215	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72670602	1.00[ASN][1000 genomes]
rs72672804	0.82[ASN][1000 genomes]
rs9991444	0.90[EUR][1000 genomes]
rs9991633	0.90[EUR][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
rs17007477	INTU	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124743200-124759800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:124751000-124758000	Weak transcription	Fetal Intestine Small	intestine
3	chr4:124752000-124755600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:124752000-124755800	Enhancers	HSMM	muscle
5	chr4:124752000-124756000	Enhancers	HUVEC	blood vessel
6	chr4:124752000-124756400	Enhancers	Fetal Heart	heart
7	chr4:124752400-124755600	Enhancers	Osteobl	bone
8	chr4:124752400-124764800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:124752400-124769000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:124752600-124756000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:124753000-124755600	Enhancers	NHEK	skin
12	chr4:124754000-124755800	Enhancers	NHLF	lung
13	chr4:124754200-124758000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:124754200-124758000	Weak transcription	Ovary	ovary
15	chr4:124754400-124755600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr4:124754400-124755800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:124754400-124755800	Enhancers	NHDF-Ad	bronchial
18	chr4:124754400-124759400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:124754600-124758000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:124754800-124758200	Weak transcription	Fetal Stomach	stomach
21	chr4:124754800-124762800	Weak transcription	Aorta	Aorta
22	chr4:124755000-124756000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:124755000-124759400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:124755200-124755600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:124755200-124756000	Enhancers	Colon Smooth Muscle	Colon
26	chr4:124755200-124758000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:124755200-124758200	Weak transcription	HMEC	breast
28	chr4:124755200-124759600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:124755400-124757200	Weak transcription	Fetal Lung	lung
30	chr4:124755400-124758000	Weak transcription	HSMMtube	muscle
31	chr4:124755400-124758200	Weak transcription	NH-A	brain
32	chr4:124755400-124759600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links