Variant report

Variant	rs11907467
Chromosome Location	chr20:13042264-13042265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11907026	1.00[EUR][1000 genomes]
rs11908439	1.00[EUR][1000 genomes]
rs11908459	1.00[EUR][1000 genomes]
rs16993615	1.00[EUR][1000 genomes]
rs399107	1.00[EUR][1000 genomes]
rs473182	1.00[EUR][1000 genomes]
rs6033571	1.00[EUR][1000 genomes]
rs6033580	1.00[EUR][1000 genomes]
rs6041745	1.00[EUR][1000 genomes]
rs6041746	1.00[EUR][1000 genomes]
rs6041754	1.00[EUR][1000 genomes]
rs6041756	1.00[EUR][1000 genomes]
rs6041773	1.00[EUR][1000 genomes]
rs6041778	1.00[EUR][1000 genomes]
rs7271965	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057219	chr20:12729479-13338337	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv912684	chr20:12734299-13311983	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1067036	chr20:12737436-13338337	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3488304	chr20:12738054-13341279	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3488305	chr20:12738054-13341279	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv518184	chr20:12743808-13344672	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1063587	chr20:12756524-13330103	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv544185	chr20:12756524-13330103	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv916296	chr20:12756605-13329940	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1067720	chr20:12756725-13329963	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv532513	chr20:12756725-13329963	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1064901	chr20:12773504-13318421	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv833923	chr20:12904689-13064426	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv833924	chr20:12997093-13189239	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13003800-13049600	Weak transcription	Lung	lung
2	chr20:13026000-13049400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr20:13028400-13060200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr20:13029000-13043000	Strong transcription	Placenta	Placenta
5	chr20:13030600-13074000	Weak transcription	Ovary	ovary
6	chr20:13033800-13046600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:13037200-13046600	Weak transcription	Fetal Intestine Large	intestine
8	chr20:13037200-13047800	Weak transcription	Fetal Intestine Small	intestine
9	chr20:13039600-13065600	Weak transcription	Thymus	Thymus
10	chr20:13039800-13049000	Weak transcription	Liver	Liver
11	chr20:13040600-13052400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr20:13041400-13042800	Genic enhancers	HepG2	liver
13	chr20:13041800-13043000	Enhancers	HMEC	breast
14	chr20:13041800-13043600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:13041800-13043800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:13041800-13043800	Enhancers	NHEK	skin
17	chr20:13042000-13042600	Enhancers	Esophagus	oesophagus
18	chr20:13042000-13042600	Enhancers	Pancreas	Pancrea
19	chr20:13042000-13042800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr20:13042000-13042800	Enhancers	Left Ventricle	heart
21	chr20:13042000-13043800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr20:13042000-13043800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:13042200-13042600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr20:13042200-13042600	Weak transcription	Right Ventricle	heart
25	chr20:13042200-13042800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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