Variant report

Variant	rs6083004
Chromosome Location	chr20:23080369-23080370
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23079507..23082069-chr20:23090544..23092164,2	K562	blood:
2	chr20:23080110..23082822-chr20:23132025..23133564,2	K562	blood:
3	chr20:23072935..23075069-chr20:23079022..23080703,2	K562	blood:
4	chr20:23029285..23030883-chr20:23079788..23082337,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11697283	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs13036769	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1320561	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1835700	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2404885	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6132564	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6137832	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8122415	0.89[CEU][hapmap];0.82[GIH][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs946368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23069000-23080400	Weak transcription	Fetal Thymus	thymus
2	chr20:23072800-23092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:23073000-23087000	Weak transcription	Gastric	stomach
4	chr20:23073800-23085800	Weak transcription	Right Ventricle	heart
5	chr20:23074600-23080400	Weak transcription	Spleen	Spleen
6	chr20:23074600-23082200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:23074600-23083000	Weak transcription	Right Atrium	heart
8	chr20:23075000-23083000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr20:23075000-23085600	Weak transcription	Fetal Lung	lung
10	chr20:23076600-23082400	Weak transcription	HUVEC	blood vessel
11	chr20:23077400-23084800	Enhancers	Placenta	Placenta
12	chr20:23077800-23080600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:23077800-23082400	Weak transcription	Left Ventricle	heart
14	chr20:23079000-23081600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr20:23079000-23084400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:23079200-23080600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr20:23079200-23081000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr20:23079200-23082600	Weak transcription	Lung	lung
19	chr20:23079200-23083400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr20:23079400-23082000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr20:23079800-23083400	Enhancers	Esophagus	oesophagus
22	chr20:23080000-23080600	Enhancers	NHEK	skin
23	chr20:23080000-23082200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:23080000-23082200	Enhancers	HMEC	breast
25	chr20:23080000-23082600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:23080200-23081200	Enhancers	Adipose Nuclei	Adipose
27	chr20:23080200-23082000	Enhancers	Fetal Stomach	stomach

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