Variant report

Variant	rs726990
Chromosome Location	chr5:126542592-126542593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126540940..126545272-chr5:126547705..126551506,4	K562	blood:
2	chr5:126362711..126365443-chr5:126540946..126543546,2	MCF-7	breast:
3	chr5:126541458..126543410-chr5:126564041..126565697,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10037625	0.85[EUR][1000 genomes]
rs108558	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11241913	0.84[CEU][hapmap]
rs12655220	0.84[CEU][hapmap]
rs13178353	0.88[EUR][1000 genomes]
rs173555	0.85[EUR][1000 genomes]
rs1860439	0.85[EUR][1000 genomes]
rs1860441	0.81[EUR][1000 genomes]
rs193712	0.84[EUR][1000 genomes]
rs2041318	0.82[CEU][hapmap];0.91[JPT][hapmap]
rs2109215	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes]
rs2408790	0.89[EUR][1000 genomes]
rs2436437	0.85[EUR][1000 genomes]
rs248040	0.96[CEU][hapmap];0.95[JPT][hapmap]
rs248042	0.81[EUR][1000 genomes]
rs248062	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs248081	0.87[JPT][hapmap]
rs248091	0.83[EUR][1000 genomes]
rs248092	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs248093	0.84[EUR][1000 genomes]
rs248094	0.84[EUR][1000 genomes]
rs248095	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs248096	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs248101	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs248102	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs248105	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs248106	0.83[EUR][1000 genomes]
rs248107	0.83[CEU][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs248108	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs248109	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs248111	0.84[EUR][1000 genomes]
rs248112	0.85[EUR][1000 genomes]
rs248113	0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248114	0.85[EUR][1000 genomes]
rs248115	0.85[EUR][1000 genomes]
rs248116	0.82[EUR][1000 genomes]
rs248117	0.84[EUR][1000 genomes]
rs248118	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248119	0.85[EUR][1000 genomes]
rs248121	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248122	0.85[EUR][1000 genomes]
rs248124	0.85[EUR][1000 genomes]
rs248125	0.85[EUR][1000 genomes]
rs248126	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs248127	0.85[EUR][1000 genomes]
rs248128	0.85[EUR][1000 genomes]
rs248129	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs248131	0.85[EUR][1000 genomes]
rs2532882	0.85[EUR][1000 genomes]
rs2585204	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2898037	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3095137	0.85[EUR][1000 genomes]
rs3097870	0.85[EUR][1000 genomes]
rs4835925	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4836315	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57555006	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6859962	0.89[EUR][1000 genomes]
rs6864668	0.85[EUR][1000 genomes]
rs6879393	0.85[EUR][1000 genomes]
rs6883672	0.90[EUR][1000 genomes]
rs6888087	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6894575	0.85[AFR][1000 genomes]
rs6898415	0.85[EUR][1000 genomes]
rs727038	0.82[CEU][hapmap]
rs7700812	0.85[EUR][1000 genomes]
rs885699	0.85[EUR][1000 genomes]
rs9327433	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9687751	0.81[EUR][1000 genomes]
rs9687752	0.81[EUR][1000 genomes]
rs9763733	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs990743	0.88[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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs726990	MARCH3	cis	Muscle Skeletal	GTEx
rs726990	C5orf63	cis	Nerve Tibial	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126539800-126543000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:126540000-126542800	Enhancers	NH-A	brain
3	chr5:126540800-126543000	Enhancers	HUVEC	blood vessel
4	chr5:126541200-126542800	Enhancers	HMEC	breast
5	chr5:126541200-126543000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:126541600-126542800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:126541600-126542800	Enhancers	HSMM	muscle
8	chr5:126541800-126543000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:126542000-126542600	Enhancers	HepG2	liver
10	chr5:126542000-126542600	Enhancers	NHEK	skin
11	chr5:126542000-126542800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:126542200-126542600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:126542200-126542600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr5:126542200-126542600	Enhancers	Brain Cingulate Gyrus	brain
15	chr5:126542200-126542600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr5:126542200-126542600	Enhancers	Fetal Stomach	stomach
17	chr5:126542200-126542600	Flanking Active TSS	A549	lung
18	chr5:126542200-126542600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
19	chr5:126542200-126542800	Enhancers	Brain Hippocampus Middle	brain
20	chr5:126542200-126543000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:126542400-126542600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:126542400-126542800	Enhancers	Brain Substantia Nigra	brain
23	chr5:126542400-126542800	Enhancers	Osteobl	bone

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