Variant report

Variant	rs2276495
Chromosome Location	chr20:52611216-52611217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs208361	0.80[EUR][1000 genomes]
rs208382	1.00[CEU][hapmap];0.93[GIH][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs208390	0.85[JPT][hapmap]
rs2276505	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299724	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2299732	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2302040	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.82[ASN][1000 genomes]
rs391906	1.00[CEU][hapmap]
rs6013869	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs6097713	0.82[JPT][hapmap]
rs6123333	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs6123334	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs73622290	0.82[ASN][1000 genomes]
rs73622291	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52601400-52612400	Weak transcription	Brain Angular Gyrus	brain
3	chr20:52601400-52612400	Weak transcription	Brain Anterior Caudate	brain
4	chr20:52601800-52612400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr20:52601800-52630800	Weak transcription	Stomach Mucosa	stomach
6	chr20:52604400-52618200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr20:52610000-52612600	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr20:52610600-52612200	Weak transcription	Brain Substantia Nigra	brain
9	chr20:52610800-52612800	Active TSS	HSMMtube	muscle
10	chr20:52611000-52612200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr20:52611200-52612400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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