Variant report

Variant	rs3827068
Chromosome Location	chr20:40704103-40704104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1884035	0.98[ASN][1000 genomes]
rs2003686	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3091739	1.00[JPT][hapmap]
rs35303557	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3787282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41278132	0.96[ASN][1000 genomes]
rs73119811	0.96[ASN][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	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv995175	chr20:40699252-40707470	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40697200-40705800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:40701800-40715200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr20:40702800-40706000	Enhancers	Fetal Stomach	stomach
4	chr20:40703200-40704200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr20:40703200-40704200	Enhancers	Stomach Mucosa	stomach
6	chr20:40703200-40704400	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr20:40703200-40704600	Enhancers	Gastric	stomach
8	chr20:40703400-40705200	Enhancers	Fetal Lung	lung
9	chr20:40703800-40713200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr20:40704000-40704200	Enhancers	Right Ventricle	heart
11	chr20:40704000-40704600	Enhancers	Esophagus	oesophagus
12	chr20:40704000-40705000	Enhancers	Lung	lung
13	chr20:40704000-40705200	Enhancers	Duodenum Mucosa	Duodenum

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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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