Variant report

Variant	rs62458986
Chromosome Location	chr7:79014052-79014053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10085854	0.80[ASN][1000 genomes]
rs10225318	0.80[ASN][1000 genomes]
rs10238084	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10247922	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248439	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248584	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10256084	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10258290	0.80[ASN][1000 genomes]
rs10260696	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261439	1.00[ASN][1000 genomes]
rs10263112	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269542	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275975	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276665	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155234	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1528262	0.80[ASN][1000 genomes]
rs16886549	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17421940	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17478565	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481134	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17818755	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918930	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997277	0.80[ASN][1000 genomes]
rs2364908	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450541	0.80[ASN][1000 genomes]
rs28611031	0.80[ASN][1000 genomes]
rs28700941	0.80[ASN][1000 genomes]
rs56829360	0.80[ASN][1000 genomes]
rs61075638	0.80[ASN][1000 genomes]
rs62458985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458987	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458988	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458989	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458990	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466602	0.80[ASN][1000 genomes]
rs6466622	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466638	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977556	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375167	0.80[ASN][1000 genomes]
rs7787956	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800314	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806922	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7810770	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7811441	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848916	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848932	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848934	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848944	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848948	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848953	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991261	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv464600	chr7:78981719-79030922	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv607663	chr7:78981719-79030922	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv888513	chr7:78983840-79023504	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv888514	chr7:78987060-79061837	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv607664	chr7:78998409-79057761	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79007200-79015800	Weak transcription	Brain Substantia Nigra	brain
2	chr7:79013400-79016000	Weak transcription	NHLF	lung

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