Variant report

Variant	rs57602234
Chromosome Location	chr20:13561014-13561015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12479594	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12479746	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12480217	1.00[AMR][1000 genomes]
rs12480263	1.00[AMR][1000 genomes]
rs12480277	1.00[AMR][1000 genomes]
rs12480426	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12480977	1.00[AMR][1000 genomes]
rs34573439	1.00[AMR][1000 genomes]
rs60385063	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60404222	1.00[AMR][1000 genomes]
rs6079117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61152009	0.87[AFR][1000 genomes]
rs61343988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv458871	chr20:13447896-13573415	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv585436	chr20:13447896-13573415	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	nsv912687	chr20:13507057-13591596	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1797514	chr20:13541011-13610424	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv912688	chr20:13546903-13589682	ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13492200-13567000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr20:13497800-13563400	Weak transcription	Pancreas	Pancrea
3	chr20:13508000-13563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr20:13508400-13563400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:13515000-13605600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr20:13526800-13561800	Weak transcription	Stomach Mucosa	stomach
7	chr20:13526800-13613800	Weak transcription	Hela-S3	cervix
8	chr20:13527400-13562200	Weak transcription	Aorta	Aorta
9	chr20:13527400-13563400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr20:13527800-13563400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr20:13534600-13563600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr20:13534600-13563600	Weak transcription	Lung	lung
13	chr20:13535000-13563400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr20:13535600-13608000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:13535800-13561400	Weak transcription	NHEK	skin
16	chr20:13536800-13563400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr20:13537400-13563600	Weak transcription	Placenta	Placenta
18	chr20:13538200-13571800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr20:13541200-13578000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr20:13544200-13563600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr20:13545000-13567000	Strong transcription	Dnd41	blood
22	chr20:13546200-13594200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr20:13546400-13563400	Weak transcription	Fetal Brain Female	brain
24	chr20:13546800-13574000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:13547600-13565600	Weak transcription	Osteobl	bone
26	chr20:13547800-13563600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr20:13547800-13563600	Weak transcription	Fetal Kidney	kidney
28	chr20:13548000-13563400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr20:13548000-13568600	Weak transcription	Brain Angular Gyrus	brain
30	chr20:13548600-13563600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr20:13548600-13566200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr20:13548600-13568800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr20:13548600-13584600	Weak transcription	Gastric	stomach
34	chr20:13549000-13563400	Weak transcription	NH-A	brain
35	chr20:13551200-13563400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr20:13551600-13563600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr20:13551800-13563400	Weak transcription	Esophagus	oesophagus
38	chr20:13553000-13563400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:13554000-13568400	Weak transcription	Fetal Brain Male	brain
40	chr20:13554400-13563400	Weak transcription	Right Ventricle	heart
41	chr20:13554600-13577400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr20:13554800-13567000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr20:13555000-13563400	Weak transcription	Left Ventricle	heart
44	chr20:13556000-13561600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr20:13556000-13561600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr20:13556000-13565600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr20:13556200-13563600	Weak transcription	Colonic Mucosa	Colon
48	chr20:13556200-13618800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr20:13556400-13563400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr20:13556400-13563600	Weak transcription	A549	lung

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