Variant report

Variant	rs4812683
Chromosome Location	chr20:41791260-41791261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4810377	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6016967	1.00[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063450	chr20:41409901-41880620	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1060690	chr20:41413369-41851935	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1066088	chr20:41417205-42060036	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv2751914	chr20:41744586-41890453	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3514650	chr20:41791166-41791557	Enhancers ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
6	esv3447958	chr20:41791174-41791557	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
7	esv3454326	chr20:41791179-41791524	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
8	esv3514651	chr20:41791180-41791476	Enhancers Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3454325	chr20:41791185-41791529	Enhancers ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv3454324	chr20:41791200-41791491	ZNF genes & repeats Enhancers Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
11	esv3514649	chr20:41791204-41791497	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	esv3454323	chr20:41791249-41791452	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	esv3514648	chr20:41791258-41791457	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41788000-41791600	Enhancers	Fetal Stomach	stomach
2	chr20:41788200-41791600	Enhancers	Fetal Brain Female	brain
3	chr20:41789400-41791800	Enhancers	Fetal Lung	lung
4	chr20:41789400-41791800	Enhancers	Fetal Muscle Leg	muscle
5	chr20:41790400-41791600	Enhancers	Fetal Muscle Trunk	muscle
6	chr20:41790600-41800600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:41790800-41791600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr20:41791200-41791800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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