Variant report

Variant	rs8121193
Chromosome Location	chr20:13124600-13124601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17190927	1.00[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs2236124	1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[ASN][1000 genomes]
rs6074564	0.92[CHB][hapmap]
rs6078931	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6078936	1.00[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6078938	1.00[CHB][hapmap]
rs6109723	1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs7264061	1.00[CHB][hapmap]
rs73610452	0.91[ASN][1000 genomes]
rs73610453	0.91[ASN][1000 genomes]
rs8119743	1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[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:34 , 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	chr20:13110000-13126400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr20:13111200-13144000	Weak transcription	Thymus	Thymus
7	chr20:13111400-13134200	Weak transcription	Aorta	Aorta
8	chr20:13114000-13127600	Weak transcription	Left Ventricle	heart
9	chr20:13114200-13149200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr20:13114800-13127600	Weak transcription	Ovary	ovary
11	chr20:13115000-13134600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr20:13115200-13126800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr20:13115200-13129000	Weak transcription	Lung	lung
14	chr20:13115600-13143400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr20:13116000-13127400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr20:13121400-13125000	Strong transcription	Placenta	Placenta
17	chr20:13122200-13125800	Strong transcription	Fetal Intestine Large	intestine
18	chr20:13122400-13139200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr20:13122600-13127000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr20:13122600-13134800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr20:13122800-13127400	Weak transcription	Liver	Liver
22	chr20:13123200-13127400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:13123200-13127400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr20:13123200-13127600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr20:13123200-13127600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr20:13123400-13124600	Strong transcription	Fetal Intestine Small	intestine
27	chr20:13123400-13127400	Weak transcription	NHDF-Ad	bronchial
28	chr20:13123600-13127400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr20:13123600-13127400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:13123600-13127600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:13123600-13127600	Weak transcription	HSMMtube	muscle
32	chr20:13124000-13124800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr20:13124200-13125200	Strong transcription	HepG2	liver
34	chr20:13124600-13125600	Weak transcription	Fetal Intestine Small	intestine

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