Variant report

Variant	rs72940308
Chromosome Location	chr2:206102185-206102186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10490300	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16837099	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72936153	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72938094	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72938099	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72940317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72940320	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72940321	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72940324	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72940327	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72940337	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206085800-206120800	Weak transcription	Left Ventricle	heart
2	chr2:206090000-206110600	Weak transcription	Brain Anterior Caudate	brain
3	chr2:206093200-206113200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:206093400-206102200	Weak transcription	Adipose Nuclei	Adipose
5	chr2:206094600-206116000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:206094800-206104200	Weak transcription	Pancreas	Pancrea
7	chr2:206095800-206113200	Weak transcription	Liver	Liver
8	chr2:206097200-206109200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:206097200-206109600	Weak transcription	Ovary	ovary
10	chr2:206097200-206118000	Weak transcription	Aorta	Aorta
11	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
12	chr2:206097800-206106400	Weak transcription	HSMM	muscle

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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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