Variant report

Variant	rs28592869
Chromosome Location	chr13:111033568-111033569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111021258..111023149-chr13:111033167..111035272,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34204050	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4132949	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9555696	0.86[AFR][1000 genomes]
rs9559785	0.83[AMR][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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111015600-111036600	Weak transcription	Fetal Intestine Small	intestine
2	chr13:111019600-111034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:111024800-111039400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:111028400-111034600	Enhancers	NHDF-Ad	bronchial
6	chr13:111029000-111033600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:111029000-111033800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:111029400-111034200	Genic enhancers	Osteobl	bone
9	chr13:111030600-111034200	Enhancers	Ovary	ovary
10	chr13:111031000-111033600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:111031000-111033600	Enhancers	Right Ventricle	heart
12	chr13:111031000-111033800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:111031000-111033800	Enhancers	Right Atrium	heart
14	chr13:111031000-111034000	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr13:111031000-111034400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:111031000-111038400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:111031000-111039800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:111031200-111033600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:111031200-111033800	Enhancers	Left Ventricle	heart
20	chr13:111031400-111033600	Genic enhancers	Placenta	Placenta
21	chr13:111031400-111033600	Enhancers	A549	lung
22	chr13:111031400-111034200	Genic enhancers	Fetal Muscle Leg	muscle
23	chr13:111031600-111034400	Genic enhancers	Adipose Nuclei	Adipose
24	chr13:111031600-111035400	Enhancers	NHLF	lung
25	chr13:111031600-111040200	Weak transcription	Aorta	Aorta
26	chr13:111031800-111035800	Enhancers	HUVEC	blood vessel
27	chr13:111032000-111034200	Enhancers	Gastric	stomach
28	chr13:111032000-111034200	Enhancers	HSMMtube	muscle
29	chr13:111032000-111034400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr13:111032200-111033800	Enhancers	Lung	lung
31	chr13:111032200-111034400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr13:111032400-111033800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:111032400-111035200	Enhancers	NHEK	skin
34	chr13:111032600-111033800	Strong transcription	Fetal Stomach	stomach
35	chr13:111032600-111034200	Weak transcription	Colon Smooth Muscle	Colon
36	chr13:111032600-111036600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:111032600-111037600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:111032600-111037600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr13:111032600-111040200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr13:111032800-111034800	Enhancers	HMEC	breast
41	chr13:111032800-111036800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:111033000-111033600	Enhancers	Pancreas	Pancrea
43	chr13:111033000-111033600	Enhancers	Spleen	Spleen
44	chr13:111033000-111035400	Genic enhancers	HSMM	muscle
45	chr13:111033200-111033800	Enhancers	Esophagus	oesophagus
46	chr13:111033200-111034200	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr13:111033200-111034400	Genic enhancers	NH-A	brain
48	chr13:111033200-111034600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:111033200-111037000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr13:111033200-111039600	Weak transcription	Rectal Smooth Muscle	rectum

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