Variant report

Variant	rs57995398
Chromosome Location	chr7:147716791-147716792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10264127	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10279570	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10280388	0.81[AFR][1000 genomes]
rs10500195	0.88[ASN][1000 genomes]
rs10952724	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12055952	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12539260	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12667149	0.82[AFR][1000 genomes]
rs12674206	0.82[AFR][1000 genomes]
rs12674208	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12703988	0.82[AFR][1000 genomes]
rs16883782	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17170795	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17170796	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2710076	0.82[ASN][1000 genomes]
rs34395632	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34607423	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35532322	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36041215	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4726915	0.80[ASN][1000 genomes]
rs715183	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs757695	0.84[EUR][1000 genomes]
rs9640249	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9640250	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[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	nsv1023913	chr7:147521075-147806318	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1026058	chr7:147521109-147783042	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv539179	chr7:147521109-147783042	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv934002	chr7:147521110-147807705	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017610	chr7:147523752-147806427	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2762708	chr7:147714781-147717262	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	n/a
7	esv2764042	chr7:147714781-147717262	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147709200-147717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:147709600-147718400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:147713400-147718600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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