Variant report

Variant	rs12537817
Chromosome Location	chr7:50936102-50936103
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10486746	0.89[EUR][1000 genomes]
rs11238371	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238391	0.89[EUR][1000 genomes]
rs11762951	0.89[AMR][1000 genomes]
rs11768798	0.94[EUR][1000 genomes]
rs11768836	0.88[EUR][1000 genomes]
rs11769141	0.89[EUR][1000 genomes]
rs11769251	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11971137	0.88[EUR][1000 genomes]
rs11975831	0.88[EUR][1000 genomes]
rs11976892	0.88[EUR][1000 genomes]
rs11976942	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11978416	0.89[EUR][1000 genomes]
rs11979920	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11980879	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11981285	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12533689	0.89[EUR][1000 genomes]
rs17134068	0.89[AMR][1000 genomes]
rs2023959	0.89[EUR][1000 genomes]
rs34867714	0.88[EUR][1000 genomes]
rs55958753	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56025941	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56046626	0.89[AMR][1000 genomes]
rs57377275	0.88[EUR][1000 genomes]
rs57780834	0.88[EUR][1000 genomes]
rs59368174	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61445038	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62447625	0.89[AMR][1000 genomes]
rs62449460	0.94[EUR][1000 genomes]
rs62449466	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62449470	0.82[EUR][1000 genomes]
rs62449503	0.89[EUR][1000 genomes]
rs62449531	0.88[EUR][1000 genomes]
rs62449535	0.88[EUR][1000 genomes]
rs62449536	0.83[EUR][1000 genomes]
rs62449537	0.88[EUR][1000 genomes]
rs62449538	0.88[EUR][1000 genomes]
rs6977927	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs6979571	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73342645	0.89[AMR][1000 genomes]
rs73342688	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73344412	1.00[EUR][1000 genomes]
rs73344443	0.89[EUR][1000 genomes]
rs7800996	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7806327	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv524131	chr7:50933370-50961303	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv527462	chr7:50933370-50989383	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv888022	chr7:50933678-51046674	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50933200-50936400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:50933400-50936400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:50933400-50936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:50933600-50937600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:50933600-50937800	Enhancers	Fetal Heart	heart
6	chr7:50934400-50936200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:50934400-50936400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:50934600-50936400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:50934600-50936400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:50934800-50936800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:50935000-50936200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:50935000-50936200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:50935000-50936400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:50935000-50936400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:50935200-50936600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:50935400-50936400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:50935400-50939000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:50935600-50936400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:50935600-50936400	Enhancers	Pancreas	Pancrea
20	chr7:50935600-50936600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:50935600-50937000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:50935600-50938200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:50935800-50936200	Enhancers	A549	lung
24	chr7:50935800-50938000	Enhancers	NH-A	brain
25	chr7:50936000-50936800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:50936000-50936800	Enhancers	Osteobl	bone
27	chr7:50936000-50937000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:50936000-50937000	Enhancers	Brain Substantia Nigra	brain
29	chr7:50936000-50937400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:50936000-50938000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:50936000-50938200	Enhancers	NHDF-Ad	bronchial

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