Variant report

Variant	rs72940337
Chromosome Location	chr2:206117273-206117274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10490300	0.81[EUR][1000 genomes]
rs1540360	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16837099	0.81[EUR][1000 genomes]
rs1921810	0.84[EUR][1000 genomes]
rs57964434	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6737756	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6752823	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72936153	0.93[EUR][1000 genomes]
rs72938094	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72938099	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72940308	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72940317	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72940320	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72940321	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72940324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72940327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72940348	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72940357	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv517619	chr2:206115788-206125313	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206085800-206120800	Weak transcription	Left Ventricle	heart
2	chr2:206097200-206118000	Weak transcription	Aorta	Aorta
3	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
4	chr2:206108400-206145200	Weak transcription	HSMM	muscle
5	chr2:206110000-206121400	Weak transcription	Fetal Stomach	stomach
6	chr2:206111400-206124200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:206113400-206139800	Weak transcription	Pancreas	Pancrea
8	chr2:206114200-206121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:206115200-206121800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:206116200-206124600	Weak transcription	Adipose Nuclei	Adipose

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Input of quick search could be:

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

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