Variant report

Variant	rs12533689
Chromosome Location	chr7:51007173-51007174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10486746	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238371	0.89[EUR][1000 genomes]
rs11238391	1.00[EUR][1000 genomes]
rs11768798	0.84[EUR][1000 genomes]
rs11769141	1.00[EUR][1000 genomes]
rs11769251	0.84[EUR][1000 genomes]
rs11976942	0.84[EUR][1000 genomes]
rs11978416	1.00[EUR][1000 genomes]
rs11980879	0.84[EUR][1000 genomes]
rs11981285	0.89[EUR][1000 genomes]
rs12537817	0.89[EUR][1000 genomes]
rs2023959	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55958753	0.89[EUR][1000 genomes]
rs56025941	0.89[EUR][1000 genomes]
rs59368174	0.84[EUR][1000 genomes]
rs61445038	0.89[EUR][1000 genomes]
rs62449460	0.84[EUR][1000 genomes]
rs62449466	0.89[EUR][1000 genomes]
rs62449503	1.00[EUR][1000 genomes]
rs6977927	0.89[EUR][1000 genomes]
rs6979571	0.84[EUR][1000 genomes]
rs73342688	0.89[EUR][1000 genomes]
rs73344412	0.89[EUR][1000 genomes]
rs73344443	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7800996	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	nsv508453	chr7:50963780-51030439	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2761146	chr7:50975457-51957019	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1027122	chr7:50984824-51376078	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv538836	chr7:50984824-51376078	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50997000-51008600	Weak transcription	Pancreas	Pancrea
2	chr7:51005400-51007400	Enhancers	HSMM	muscle
3	chr7:51005800-51007400	Enhancers	Fetal Muscle Leg	muscle
4	chr7:51006000-51021200	Weak transcription	Right Atrium	heart
5	chr7:51006200-51007200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:51006400-51007200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:51006600-51007200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:51006600-51007200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr7:51006800-51009400	Enhancers	Thymus	Thymus
10	chr7:51007000-51008000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:51007000-51008000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:51007000-51008000	Weak transcription	Fetal Heart	heart
13	chr7:51007000-51008000	Weak transcription	NHDF-Ad	bronchial
14	chr7:51007000-51008200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:51007000-51009600	Enhancers	HSMMtube	muscle

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