Variant report

Variant	rs8123503
Chromosome Location	chr20:13511216-13511217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6042311	1.00[EUR][1000 genomes]
rs60768292	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6134868	1.00[CEU][hapmap]
rs6134887	1.00[JPT][hapmap]
rs7261986	1.00[EUR][1000 genomes]
rs7263871	1.00[EUR][1000 genomes]
rs7274812	1.00[EUR][1000 genomes]
rs73264963	1.00[EUR][1000 genomes]
rs973143	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13485000-13543600	Weak transcription	Small Intestine	intestine
2	chr20:13487600-13515000	Weak transcription	Brain Germinal Matrix	brain
3	chr20:13489200-13514600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr20:13492200-13567000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr20:13493600-13519200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr20:13494000-13512400	Weak transcription	Placenta	Placenta
7	chr20:13494000-13515600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr20:13494200-13516000	Weak transcription	Colonic Mucosa	Colon
9	chr20:13494400-13514800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr20:13494600-13516400	Weak transcription	Esophagus	oesophagus
11	chr20:13495800-13515000	Weak transcription	Fetal Brain Male	brain
12	chr20:13496000-13520200	Weak transcription	HSMMtube	muscle
13	chr20:13496200-13512400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr20:13497800-13563400	Weak transcription	Pancreas	Pancrea
15	chr20:13499200-13514600	Weak transcription	Brain Angular Gyrus	brain
16	chr20:13499800-13512800	Weak transcription	Colon Smooth Muscle	Colon
17	chr20:13501200-13514600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr20:13502400-13516400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr20:13502800-13512200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr20:13502800-13519200	Weak transcription	Lung	lung
21	chr20:13503000-13537600	Weak transcription	Psoas Muscle	Psoas
22	chr20:13503000-13538200	Weak transcription	Ovary	ovary
23	chr20:13504200-13527000	Strong transcription	Dnd41	blood
24	chr20:13504600-13516200	Weak transcription	Brain Hippocampus Middle	brain
25	chr20:13505800-13517000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr20:13506000-13517200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr20:13506400-13516800	Weak transcription	NH-A	brain
28	chr20:13506400-13558800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr20:13506600-13514600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr20:13506600-13516000	Weak transcription	HUVEC	blood vessel
31	chr20:13506600-13517800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:13507000-13515800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr20:13507400-13514600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr20:13507800-13526200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr20:13508000-13511400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:13508000-13511800	Weak transcription	Thymus	Thymus
37	chr20:13508000-13517800	Weak transcription	Gastric	stomach
38	chr20:13508000-13527000	Weak transcription	NHEK	skin
39	chr20:13508000-13534000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr20:13508000-13542000	Weak transcription	Fetal Intestine Small	intestine
41	chr20:13508000-13563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr20:13508200-13511800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr20:13508200-13513000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr20:13508200-13513400	Weak transcription	Fetal Lung	lung
45	chr20:13508200-13513800	Weak transcription	Spleen	Spleen
46	chr20:13508200-13514800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr20:13508200-13525000	Weak transcription	A549	lung
48	chr20:13508200-13556400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr20:13508400-13511600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr20:13508400-13512600	Weak transcription	Adipose Nuclei	Adipose

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