Variant report

Variant	rs910969
Chromosome Location	chr20:13507872-13507873
allele	A/G
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:17)

rs_ID	r²[population]
rs1012242	0.80[EUR][1000 genomes]
rs1884796	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1884797	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1998123	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2327790	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3761889	0.90[EUR][1000 genomes]
rs3761890	0.90[EUR][1000 genomes]
rs4813130	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4814235	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6033724	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6033749	0.91[EUR][1000 genomes]
rs6042135	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6042141	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6042211	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6109923	0.94[EUR][1000 genomes]
rs6109935	0.80[EUR][1000 genomes]
rs6109946	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13483200-13509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr20:13485000-13543600	Weak transcription	Small Intestine	intestine
3	chr20:13487600-13515000	Weak transcription	Brain Germinal Matrix	brain
4	chr20:13489200-13514600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr20:13490400-13509600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr20:13492200-13567000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr20:13493600-13510800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr20:13493600-13519200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr20:13494000-13512400	Weak transcription	Placenta	Placenta
10	chr20:13494000-13515600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr20:13494200-13516000	Weak transcription	Colonic Mucosa	Colon
12	chr20:13494400-13514800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:13494600-13516400	Weak transcription	Esophagus	oesophagus
14	chr20:13495400-13511000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr20:13495800-13515000	Weak transcription	Fetal Brain Male	brain
16	chr20:13496000-13520200	Weak transcription	HSMMtube	muscle
17	chr20:13496200-13512400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr20:13496800-13509800	Weak transcription	Brain Substantia Nigra	brain
19	chr20:13497200-13509600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr20:13497800-13563400	Weak transcription	Pancreas	Pancrea
21	chr20:13499200-13514600	Weak transcription	Brain Angular Gyrus	brain
22	chr20:13499800-13512800	Weak transcription	Colon Smooth Muscle	Colon
23	chr20:13501200-13514600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr20:13502400-13516400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr20:13502600-13508600	Strong transcription	Primary T cells from cord blood	blood
26	chr20:13502600-13509200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr20:13502600-13509200	Strong transcription	Fetal Intestine Large	intestine
28	chr20:13502600-13509800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr20:13502600-13509800	Strong transcription	Fetal Thymus	thymus
30	chr20:13502800-13512200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr20:13502800-13519200	Weak transcription	Lung	lung
32	chr20:13503000-13509800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr20:13503000-13537600	Weak transcription	Psoas Muscle	Psoas
34	chr20:13503000-13538200	Weak transcription	Ovary	ovary
35	chr20:13503200-13509400	Weak transcription	Fetal Brain Female	brain
36	chr20:13503800-13508000	Strong transcription	Gastric	stomach
37	chr20:13503800-13508400	Strong transcription	Adipose Nuclei	Adipose
38	chr20:13504200-13508200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr20:13504200-13527000	Strong transcription	Dnd41	blood
40	chr20:13504600-13509600	Weak transcription	K562	blood
41	chr20:13504600-13516200	Weak transcription	Brain Hippocampus Middle	brain
42	chr20:13505000-13508000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr20:13505400-13508000	Enhancers	HMEC	breast
44	chr20:13505400-13508000	Enhancers	NHDF-Ad	bronchial
45	chr20:13505400-13508400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr20:13505400-13508400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr20:13505400-13509000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr20:13505400-13509200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr20:13505600-13508200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr20:13505800-13508000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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