Variant report

Variant	rs12506316
Chromosome Location	chr4:125346655-125346656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10440406	0.81[EUR][1000 genomes]
rs10518433	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11098757	0.88[EUR][1000 genomes]
rs11936734	0.88[EUR][1000 genomes]
rs11943459	0.80[EUR][1000 genomes]
rs11943528	0.80[EUR][1000 genomes]
rs12498640	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506381	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118604	0.81[EUR][1000 genomes]
rs1870113	0.87[EUR][1000 genomes]
rs2390685	0.81[EUR][1000 genomes]
rs34203980	0.81[EUR][1000 genomes]
rs34738531	0.81[EUR][1000 genomes]
rs3921971	0.81[EUR][1000 genomes]
rs56400664	0.81[EUR][1000 genomes]
rs62320666	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62320681	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6534437	0.81[EUR][1000 genomes]
rs6534438	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6817003	0.81[EUR][1000 genomes]
rs6824755	0.88[EUR][1000 genomes]
rs6855126	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7662095	0.81[EUR][1000 genomes]
rs7675310	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7688665	0.87[EUR][1000 genomes]
rs7691579	0.81[EUR][1000 genomes]
rs7699211	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv432624	chr4:125013395-125367740	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv998024	chr4:125019384-125380876	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537241	chr4:125019384-125380876	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1015049	chr4:125037090-125393067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125336600-125348600	Weak transcription	Psoas Muscle	Psoas
2	chr4:125339400-125348600	Weak transcription	NHDF-Ad	bronchial
3	chr4:125339600-125348600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:125343200-125350200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:125344000-125350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:125344600-125348400	Weak transcription	A549	lung
7	chr4:125344600-125350400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:125344600-125350400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:125344600-125350400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:125344800-125347800	Weak transcription	Stomach Mucosa	stomach
11	chr4:125344800-125348400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:125344800-125348400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:125344800-125348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:125344800-125348600	Weak transcription	NHEK	skin
15	chr4:125344800-125350200	Weak transcription	Osteobl	bone
16	chr4:125344800-125350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:125345200-125347600	Weak transcription	HUVEC	blood vessel
18	chr4:125345200-125350400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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