Variant report

Variant	rs11908457
Chromosome Location	chr20:16001862-16001863
allele	A/G
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:9)

rs_ID	r²[population]
rs11906454	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11908345	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12625075	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12625102	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56865319	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs57395511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60303172	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7261098	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs775113	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1065548	chr20:15971797-16023086	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1059778	chr20:15999519-16165895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv544207	chr20:15999519-16165895	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15979000-16004200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr20:15997000-16002400	Strong transcription	Primary B cells from cord blood	blood
3	chr20:15998000-16002400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr20:15998400-16012000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:15998600-16002400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr20:15999200-16002400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:15999400-16002400	Enhancers	HSMM	muscle
8	chr20:15999800-16002200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:16000000-16002200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:16000000-16002400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:16000200-16002400	Enhancers	HMEC	breast
12	chr20:16001000-16002200	Enhancers	NH-A	brain
13	chr20:16001200-16002200	Enhancers	NHEK	skin
14	chr20:16001200-16002400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr20:16001200-16002400	Enhancers	HSMMtube	muscle
16	chr20:16001400-16002400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	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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