Variant report

Variant	rs538989664
Chromosome Location	chr20:13692417-13692418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1061323	chr20:13551004-13746346	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	esv1793063	chr20:13691562-13708788	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13689000-13694400	Weak transcription	Primary B cells from cord blood	blood
2	chr20:13690000-13694000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr20:13690200-13696400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr20:13690400-13692800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr20:13690400-13697000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr20:13690600-13694000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:13690600-13694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr20:13690600-13695600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:13690600-13706200	Weak transcription	Pancreas	Pancrea
10	chr20:13691000-13692600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr20:13691000-13692800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:13691000-13692800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr20:13691000-13693800	Weak transcription	Left Ventricle	heart
14	chr20:13691200-13692800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr20:13691200-13695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:13691400-13692600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr20:13691400-13693600	Weak transcription	Fetal Intestine Large	intestine
18	chr20:13691400-13694000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr20:13691400-13694200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr20:13691400-13694200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr20:13691400-13694200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr20:13691400-13694200	Weak transcription	Osteobl	bone
23	chr20:13691400-13696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:13691400-13696200	Weak transcription	Right Ventricle	heart
25	chr20:13691600-13694400	Weak transcription	HSMM	muscle
26	chr20:13691600-13694600	Weak transcription	NH-A	brain
27	chr20:13691600-13695000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr20:13691600-13696000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr20:13691800-13692600	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr20:13691800-13694200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr20:13691800-13695400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr20:13691800-13699000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr20:13691800-13706200	Weak transcription	Aorta	Aorta
34	chr20:13691800-13708000	Weak transcription	Fetal Brain Male	brain
35	chr20:13692000-13692600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr20:13692000-13692800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:13692000-13694400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr20:13692000-13696000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr20:13692200-13692600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr20:13692200-13692600	Weak transcription	GM12878-XiMat	blood
41	chr20:13692200-13692800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr20:13692200-13692800	Weak transcription	Adipose Nuclei	Adipose
43	chr20:13692200-13692800	Weak transcription	Liver	Liver
44	chr20:13692200-13692800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr20:13692200-13693000	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr20:13692200-13693800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr20:13692200-13693800	Weak transcription	Gastric	stomach
48	chr20:13692200-13694000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr20:13692200-13694000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr20:13692200-13694000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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