Variant report

Variant	rs73257127
Chromosome Location	chr5:116188256-116188257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10073509	1.00[AMR][1000 genomes]
rs13361107	1.00[AMR][1000 genomes]
rs13436227	1.00[AMR][1000 genomes]
rs17140496	1.00[EUR][1000 genomes]
rs17140561	1.00[EUR][1000 genomes]
rs2220747	1.00[EUR][1000 genomes]
rs55653827	1.00[EUR][1000 genomes]
rs55728603	1.00[EUR][1000 genomes]
rs55925406	1.00[EUR][1000 genomes]
rs56987937	1.00[AMR][1000 genomes]
rs57431923	1.00[AMR][1000 genomes]
rs58071496	1.00[EUR][1000 genomes]
rs58373124	1.00[AMR][1000 genomes]
rs59080289	1.00[EUR][1000 genomes]
rs59227636	1.00[AMR][1000 genomes]
rs59717285	1.00[EUR][1000 genomes]
rs59854757	1.00[AMR][1000 genomes]
rs60349546	1.00[AMR][1000 genomes]
rs60439893	1.00[AMR][1000 genomes]
rs60532718	1.00[AMR][1000 genomes]
rs60742128	1.00[AMR][1000 genomes]
rs73255015	1.00[AMR][1000 genomes]
rs73257106	1.00[AMR][1000 genomes]
rs73257125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73257131	1.00[EUR][1000 genomes]
rs73259195	1.00[EUR][1000 genomes]
rs73260904	1.00[EUR][1000 genomes]
rs73260905	1.00[EUR][1000 genomes]
rs73273441	1.00[AMR][1000 genomes]
rs7715878	1.00[EUR][1000 genomes]
rs9688176	1.00[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	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv462403	chr5:115994775-116284378	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv599485	chr5:115994775-116284378	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1030056	chr5:116008971-116278725	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1020292	chr5:116183712-116349633	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv329267	chr5:116185747-116188342	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116181000-116189800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:116185200-116189800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:116185200-116191400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:116185200-116193800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:116185600-116191400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:116186600-116189800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:116186800-116189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:116187000-116189600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:116187200-116190000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:116187400-116188600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:116187800-116188600	Enhancers	HepG2	liver
12	chr5:116188200-116188400	Enhancers	H9 Cell Line	embryonic stem cell

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