Variant report

Variant	rs71540282
Chromosome Location	chr7:51008649-51008650
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]
rs10486745	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11509225	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12718987	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12718991	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13233520	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13235836	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13309489	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17134073	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17152184	0.81[ASN][1000 genomes]
rs17152188	0.85[ASN][1000 genomes]
rs17725573	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34469633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34591416	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34709117	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34790261	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35571129	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36020647	0.81[ASN][1000 genomes]
rs36040165	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36100248	0.81[ASN][1000 genomes]
rs36106319	0.81[ASN][1000 genomes]
rs4446688	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55694818	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55853103	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58935441	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71540281	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:51006000-51021200	Weak transcription	Right Atrium	heart
2	chr7:51006800-51009400	Enhancers	Thymus	Thymus
3	chr7:51007000-51009600	Enhancers	HSMMtube	muscle
4	chr7:51007800-51009400	Enhancers	HSMM	muscle
5	chr7:51008000-51008800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:51008000-51008800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:51008000-51009000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:51008000-51009000	Enhancers	Fetal Heart	heart
9	chr7:51008000-51009200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:51008000-51009400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:51008200-51008800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:51008200-51008800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:51008200-51009000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:51008200-51009200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:51008400-51014200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:51008600-51009400	Enhancers	Pancreas	Pancrea

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