Variant report

Variant	rs6048799
Chromosome Location	chr20:23426234-23426235
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:5)

rs_ID	r²[population]
rs10222034	1.00[AMR][1000 genomes]
rs13433117	1.00[AMR][1000 genomes]
rs13433160	1.00[AMR][1000 genomes]
rs6106648	1.00[AMR][1000 genomes]
rs6114088	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv470544	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv585722	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23417200-23434800	Weak transcription	Gastric	stomach
2	chr20:23417800-23441000	Weak transcription	Right Atrium	heart
3	chr20:23421200-23427200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:23422400-23426400	Enhancers	Fetal Thymus	thymus
5	chr20:23423000-23432200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:23423600-23426400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23423800-23426800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr20:23423800-23432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:23425600-23426800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:23425600-23427000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:23426000-23426800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:23426000-23426800	Enhancers	NHDF-Ad	bronchial
13	chr20:23426000-23426800	Enhancers	NHLF	lung
14	chr20:23426000-23426800	Enhancers	Osteobl	bone
15	chr20:23426000-23427000	Enhancers	NHEK	skin
16	chr20:23426000-23427200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr20:23426000-23427400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr20:23426000-23427600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:23426000-23427600	Enhancers	HMEC	breast
20	chr20:23426000-23427600	Enhancers	NH-A	brain
21	chr20:23426200-23426800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr20:23426200-23427000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr20:23426200-23427600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr20:23426200-23427800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links