Variant report

Variant	rs6068661
Chromosome Location	chr20:52394238-52394239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2870285	0.88[ASN][1000 genomes]
rs2870286	0.91[ASN][1000 genomes]
rs4811464	0.95[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6013794	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6013795	0.91[ASN][1000 genomes]
rs6013796	1.00[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6022734	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6022739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6022740	0.97[ASN][1000 genomes]
rs6022742	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6063994	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6063995	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6063996	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs6063997	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs6068659	0.98[ASN][1000 genomes]
rs6068664	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs740778	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs740779	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
2	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
3	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
4	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
5	nsv1057509	chr20:52390002-52431309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
6	esv3347191	chr20:52391640-52394708	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv586221	chr20:52392390-52418987	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52381000-52394600	Weak transcription	Right Atrium	heart
2	chr20:52384400-52394800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr20:52390200-52403400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:52390400-52395000	Enhancers	HepG2	liver
5	chr20:52391200-52394400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr20:52391400-52394600	Weak transcription	Placenta	Placenta
7	chr20:52391400-52394600	Weak transcription	Stomach Mucosa	stomach
8	chr20:52391600-52394600	Weak transcription	Small Intestine	intestine
9	chr20:52391800-52394400	Weak transcription	Pancreas	Pancrea
10	chr20:52391800-52394800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr20:52392000-52394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:52392000-52394400	Weak transcription	NHEK	skin
13	chr20:52392000-52394800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:52392000-52394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:52392000-52394800	Weak transcription	HMEC	breast
16	chr20:52392800-52394400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr20:52393200-52396000	Weak transcription	A549	lung
18	chr20:52394200-52394800	Enhancers	Liver	Liver
19	chr20:52394200-52394800	Enhancers	K562	blood

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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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