Variant report

Variant	rs7273518
Chromosome Location	chr20:25017492-25017493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1007881	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179732	0.88[EUR][1000 genomes]
rs3746330	0.87[EUR][1000 genomes]
rs6037010	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6050255	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6050259	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6050261	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6050263	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60849220	0.84[ASN][1000 genomes]
rs6132788	0.84[ASN][1000 genomes]
rs6132789	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6132790	0.87[ASN][1000 genomes]
rs6138473	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6138474	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6138475	0.84[ASN][1000 genomes]
rs6138476	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62217177	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv912826	chr20:24987787-25071454	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25010000-25017800	Weak transcription	NHDF-Ad	bronchial
2	chr20:25011600-25017800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:25011600-25017800	Enhancers	Placenta	Placenta
4	chr20:25011600-25020200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:25012000-25026400	Enhancers	Right Ventricle	heart
6	chr20:25012800-25026400	Enhancers	Brain Angular Gyrus	brain
7	chr20:25013000-25018000	Weak transcription	Aorta	Aorta
8	chr20:25013400-25022600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr20:25013800-25020200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:25014000-25018000	Weak transcription	Fetal Brain Female	brain
11	chr20:25014000-25018200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:25014000-25018200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr20:25014000-25018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:25014000-25026400	Enhancers	Brain Cingulate Gyrus	brain
15	chr20:25014200-25023000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr20:25014200-25026400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr20:25014400-25019800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr20:25014400-25025600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr20:25014600-25017800	Weak transcription	Esophagus	oesophagus
20	chr20:25014600-25017800	Weak transcription	Psoas Muscle	Psoas
21	chr20:25014600-25018000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:25014800-25018200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr20:25015200-25017800	Weak transcription	Gastric	stomach
24	chr20:25015600-25018000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr20:25015800-25019600	Enhancers	Primary B cells from peripheral blood	blood
26	chr20:25016000-25019600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr20:25016000-25020000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr20:25016000-25020200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr20:25016000-25021200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr20:25016200-25019400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr20:25016200-25020800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr20:25016200-25021800	Enhancers	Colonic Mucosa	Colon
33	chr20:25016200-25023800	Enhancers	Stomach Mucosa	stomach
34	chr20:25016200-25024200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr20:25016200-25024600	Enhancers	Fetal Thymus	thymus
36	chr20:25016400-25017800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr20:25016400-25018200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr20:25016400-25018200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr20:25016400-25018400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr20:25016400-25018400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr20:25016400-25018800	Enhancers	HUVEC	blood vessel
42	chr20:25016400-25019000	Enhancers	Duodenum Mucosa	Duodenum
43	chr20:25016400-25019400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr20:25016400-25019400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr20:25016400-25019400	Enhancers	Brain Germinal Matrix	brain
46	chr20:25016400-25019600	Enhancers	Colon Smooth Muscle	Colon
47	chr20:25016400-25019600	Enhancers	Thymus	Thymus
48	chr20:25016400-25019800	Genic enhancers	Dnd41	blood
49	chr20:25016400-25020000	Enhancers	Rectal Smooth Muscle	rectum
50	chr20:25016400-25020400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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