Variant report

Variant	rs62074423
Chromosome Location	chr17:45342981-45342982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45333610..45338031-chr17:45341654..45346712,6	K562	blood:
2	chr17:45342094..45343983-chr17:45358070..45360151,2	K562	blood:
3	chr17:45307528..45309683-chr17:45342784..45344582,2	K562	blood:
4	chr17:45342339..45344820-chr17:45354708..45356639,2	K562	blood:

Variant related genes	Relation type
ENSG00000238419	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10514919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651904	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656865	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657963	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868894	0.86[ASN][1000 genomes]
rs11870620	0.95[ASN][1000 genomes]
rs12940207	0.86[ASN][1000 genomes]
rs12941431	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941802	0.83[ASN][1000 genomes]
rs1806687	0.85[AFR][1000 genomes]
rs2292864	0.85[ASN][1000 genomes]
rs2292866	0.85[ASN][1000 genomes]
rs35265764	0.85[ASN][1000 genomes]
rs3892085	0.87[ASN][1000 genomes]
rs61131650	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066295	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074094	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080254	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884696	0.85[AFR][1000 genomes]

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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45333200-45344600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:45334000-45345800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr17:45335600-45343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr17:45335800-45343200	Weak transcription	Right Atrium	heart
5	chr17:45335800-45343600	Weak transcription	Aorta	Aorta
6	chr17:45336000-45346800	Weak transcription	Fetal Heart	heart
7	chr17:45336200-45343400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:45338000-45352200	Weak transcription	Fetal Muscle Leg	muscle
9	chr17:45339400-45345000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:45339800-45343200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr17:45340600-45343200	Weak transcription	Left Ventricle	heart
12	chr17:45340600-45343400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr17:45340600-45343400	Weak transcription	Spleen	Spleen
14	chr17:45341000-45345000	Enhancers	K562	blood
15	chr17:45341400-45348800	Enhancers	NHDF-Ad	bronchial
16	chr17:45341800-45343600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr17:45342000-45344400	Enhancers	HSMM	muscle
18	chr17:45342000-45345200	Enhancers	Small Intestine	intestine
19	chr17:45342200-45343200	Weak transcription	HepG2	liver
20	chr17:45342200-45343200	Weak transcription	HSMMtube	muscle
21	chr17:45342600-45343800	Enhancers	Right Ventricle	heart
22	chr17:45342600-45344400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:45342600-45345000	Enhancers	Colon Smooth Muscle	Colon
24	chr17:45342600-45345800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:45342600-45345800	Enhancers	NHLF	lung
26	chr17:45342600-45346000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:45342600-45348400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:45342800-45343800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:45342800-45343800	Enhancers	Psoas Muscle	Psoas
30	chr17:45342800-45344400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr17:45342800-45344400	Enhancers	Adipose Nuclei	Adipose
32	chr17:45342800-45344600	Enhancers	Rectal Smooth Muscle	rectum
33	chr17:45342800-45344800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr17:45342800-45345000	Enhancers	HMEC	breast
35	chr17:45342800-45345000	Enhancers	HUVEC	blood vessel
36	chr17:45342800-45345000	Enhancers	NH-A	brain
37	chr17:45342800-45345200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:45342800-45345200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr17:45342800-45345600	Enhancers	Fetal Intestine Small	intestine
40	chr17:45342800-45346200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:45342800-45346200	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links