Variant report

Variant	rs2876343
Chromosome Location	chr20:13128575-13128576
allele	G/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]
rs11087047	0.95[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12479690	0.91[ASN][1000 genomes]
rs12480403	0.93[ASN][1000 genomes]
rs12480507	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17263110	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2073304	0.98[ASN][1000 genomes]
rs4813117	0.94[ASN][1000 genomes]
rs4814204	0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4814205	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56744448	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6041898	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];0.82[MEX][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62201480	0.88[ASN][1000 genomes]
rs8117036	0.91[ASN][1000 genomes]
rs8117223	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8117306	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][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	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
14	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13093000-13144600	Weak transcription	Pancreas	Pancrea
2	chr20:13108200-13145000	Weak transcription	Gastric	stomach
3	chr20:13111200-13144000	Weak transcription	Thymus	Thymus
4	chr20:13111400-13134200	Weak transcription	Aorta	Aorta
5	chr20:13114200-13149200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr20:13115000-13134600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr20:13115200-13129000	Weak transcription	Lung	lung
8	chr20:13115600-13143400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr20:13122400-13139200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr20:13122600-13134800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr20:13124800-13134600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:13125800-13128600	Weak transcription	Fetal Stomach	stomach
13	chr20:13127000-13129400	Strong transcription	Fetal Intestine Large	intestine
14	chr20:13127400-13128800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:13127400-13128800	Enhancers	Fetal Lung	lung
16	chr20:13127400-13129000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr20:13127400-13129000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:13127400-13129200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr20:13127400-13129200	Enhancers	Liver	Liver
20	chr20:13127400-13129400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr20:13127400-13130000	Strong transcription	Fetal Intestine Small	intestine
22	chr20:13127400-13130800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr20:13127400-13130800	Enhancers	NHDF-Ad	bronchial
24	chr20:13127600-13128800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr20:13127600-13128800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr20:13127600-13129000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr20:13127600-13129400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr20:13127600-13129400	Enhancers	HSMMtube	muscle
29	chr20:13127600-13129600	Enhancers	Fetal Muscle Leg	muscle
30	chr20:13127800-13128600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr20:13127800-13128800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:13127800-13128800	Enhancers	Fetal Kidney	kidney
33	chr20:13127800-13129200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr20:13127800-13129400	Genic enhancers	Placenta	Placenta
35	chr20:13128000-13128800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr20:13128000-13129200	Genic enhancers	HepG2	liver
37	chr20:13128000-13129600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr20:13128000-13133400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr20:13128000-13148400	Weak transcription	Left Ventricle	heart
40	chr20:13128200-13129400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr20:13128200-13129600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr20:13128200-13134400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr20:13128200-13134400	Weak transcription	Ovary	ovary
44	chr20:13128200-13134800	Weak transcription	Adipose Nuclei	Adipose
45	chr20:13128200-13139000	Weak transcription	Right Atrium	heart
46	chr20:13128400-13128800	Weak transcription	Psoas Muscle	Psoas
47	chr20:13128400-13130800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr20:13128400-13136800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr20:13128400-13139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links