Variant report

Variant	rs60129414
Chromosome Location	chr8:49061163-49061164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49059447..49061809-chr8:49066449..49068254,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10086728	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10099601	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10104502	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10105954	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10107500	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10107531	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10109229	0.82[ASN][1000 genomes]
rs10112655	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12708172	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12708173	0.82[EUR][1000 genomes]
rs12708174	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13248162	0.80[EUR][1000 genomes]
rs13250861	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13263949	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13270721	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13276357	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13277100	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13281542	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28421609	0.80[ASN][1000 genomes]
rs28459674	0.82[EUR][1000 genomes]
rs28489005	0.82[ASN][1000 genomes]
rs28539823	0.80[ASN][1000 genomes]
rs28678298	0.80[ASN][1000 genomes]
rs34075137	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34172095	0.82[ASN][1000 genomes]
rs34608684	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34850099	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35040443	0.82[ASN][1000 genomes]
rs35637385	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35748311	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36004689	0.82[ASN][1000 genomes]
rs3923232	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4527898	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4543570	0.81[ASN][1000 genomes]
rs4610781	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873781	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873782	0.80[ASN][1000 genomes]
rs4873783	0.80[ASN][1000 genomes]
rs60275259	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6986825	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6990698	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6994790	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7004442	0.82[ASN][1000 genomes]
rs7011426	0.80[ASN][1000 genomes]
rs73571663	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7822672	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7827365	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7831644	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9792196	0.82[ASN][1000 genomes]
rs9792312	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9792353	0.82[EUR][1000 genomes];0.82[ASN][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	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49051800-49065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:49056200-49066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:49058000-49064800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:49060200-49061400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:49060200-49061600	Weak transcription	Osteobl	bone
6	chr8:49060200-49061800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:49060200-49062200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:49060200-49064200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:49060400-49061800	Weak transcription	HMEC	breast
10	chr8:49060400-49063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:49060600-49061600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:49060600-49061600	Weak transcription	Liver	Liver
13	chr8:49060600-49061600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:49060600-49061800	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:49060600-49061800	Weak transcription	NHDF-Ad	bronchial
16	chr8:49060600-49061800	Weak transcription	NHEK	skin
17	chr8:49060600-49062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:49060800-49061200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:49060800-49061200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr8:49060800-49061200	Weak transcription	HepG2	liver
21	chr8:49061000-49061400	Weak transcription	Adipose Nuclei	Adipose

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