Variant report

Variant	rs743091
Chromosome Location	chr20:13127797-13127798
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6109721	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs6109722	0.87[ASW][hapmap];0.87[LWK][hapmap];0.85[YRI][hapmap]
rs6109725	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6109736	1.00[AMR][1000 genomes]
rs7263202	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8118330	1.00[AMR][1000 genomes]
rs8124385	1.00[AMR][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13091800-13127800	Weak transcription	Fetal Kidney	kidney
2	chr20:13093000-13144600	Weak transcription	Pancreas	Pancrea
3	chr20:13108200-13145000	Weak transcription	Gastric	stomach
4	chr20:13109400-13128000	Weak transcription	Adipose Nuclei	Adipose
5	chr20:13111200-13144000	Weak transcription	Thymus	Thymus
6	chr20:13111400-13134200	Weak transcription	Aorta	Aorta
7	chr20:13114200-13149200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr20:13115000-13134600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr20:13115200-13129000	Weak transcription	Lung	lung
10	chr20:13115600-13143400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr20:13122400-13139200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr20:13122600-13134800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr20:13124800-13134600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:13125800-13128600	Weak transcription	Fetal Stomach	stomach
15	chr20:13126200-13127800	Strong transcription	Placenta	Placenta
16	chr20:13126800-13128000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr20:13127000-13127800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr20:13127000-13128000	Strong transcription	HepG2	liver
19	chr20:13127000-13129400	Strong transcription	Fetal Intestine Large	intestine
20	chr20:13127400-13127800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr20:13127400-13128200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr20:13127400-13128400	Enhancers	Psoas Muscle	Psoas
23	chr20:13127400-13128800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr20:13127400-13128800	Enhancers	Fetal Lung	lung
25	chr20:13127400-13129000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr20:13127400-13129000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr20:13127400-13129200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr20:13127400-13129200	Enhancers	Liver	Liver
29	chr20:13127400-13129400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr20:13127400-13130000	Strong transcription	Fetal Intestine Small	intestine
31	chr20:13127400-13130800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr20:13127400-13130800	Enhancers	NHDF-Ad	bronchial
33	chr20:13127600-13127800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr20:13127600-13128000	Enhancers	Fetal Muscle Trunk	muscle
35	chr20:13127600-13128000	ZNF genes & repeats	Left Ventricle	heart
36	chr20:13127600-13128000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr20:13127600-13128200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr20:13127600-13128200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr20:13127600-13128200	Enhancers	Ovary	ovary
40	chr20:13127600-13128200	Enhancers	Right Atrium	heart
41	chr20:13127600-13128400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr20:13127600-13128400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr20:13127600-13128800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr20:13127600-13128800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr20:13127600-13129000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr20:13127600-13129400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr20:13127600-13129400	Enhancers	HSMMtube	muscle
48	chr20:13127600-13129600	Enhancers	Fetal Muscle Leg	muscle

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