Variant report

Variant	rs62217175
Chromosome Location	chr20:25005948-25005949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1007881	0.84[ASN][1000 genomes]
rs41315094	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6037010	0.84[ASN][1000 genomes]
rs6050249	0.96[EUR][1000 genomes]
rs6050255	0.87[ASN][1000 genomes]
rs6050259	0.87[ASN][1000 genomes]
rs6050261	0.84[ASN][1000 genomes]
rs6050263	0.84[ASN][1000 genomes]
rs60849220	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6132784	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6132788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6132789	0.87[ASN][1000 genomes]
rs6132790	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6138464	0.91[EUR][1000 genomes]
rs6138465	0.94[EUR][1000 genomes]
rs6138473	0.87[ASN][1000 genomes]
rs6138474	0.87[ASN][1000 genomes]
rs6138475	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62217173	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62217174	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv585745	chr20:24932028-25007089	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24983200-25007800	Strong transcription	Primary T cells from cord blood	blood
2	chr20:24983200-25008200	Strong transcription	Primary B cells from cord blood	blood
3	chr20:24983800-25006800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr20:24985200-25007800	Strong transcription	Fetal Muscle Leg	muscle
5	chr20:24985800-25006800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr20:24985800-25007600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr20:24985800-25007800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr20:24986200-25012400	Strong transcription	Dnd41	blood
9	chr20:24986400-25012400	Weak transcription	Fetal Brain Male	brain
10	chr20:24987600-25007800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr20:24988200-25016400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr20:24993800-25013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr20:24994000-25013000	Weak transcription	Small Intestine	intestine
14	chr20:24994800-25006800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr20:24994800-25013200	Weak transcription	Fetal Brain Female	brain
16	chr20:24995800-25016400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr20:24996200-25010200	Weak transcription	Colon Smooth Muscle	Colon
18	chr20:24996600-25007800	Genic enhancers	Placenta	Placenta
19	chr20:24997200-25007400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr20:24997200-25016000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr20:24997400-25007800	Strong transcription	Fetal Stomach	stomach
22	chr20:24997400-25016400	Weak transcription	GM12878-XiMat	blood
23	chr20:24998600-25011400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr20:24998600-25016600	Weak transcription	Liver	Liver
25	chr20:24998800-25010200	Weak transcription	Fetal Lung	lung
26	chr20:24999800-25016400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr20:25002000-25011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr20:25002000-25013800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr20:25002200-25007600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr20:25002200-25008400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr20:25002200-25011000	Weak transcription	Brain Germinal Matrix	brain
32	chr20:25002400-25006400	Weak transcription	Brain Angular Gyrus	brain
33	chr20:25002400-25010600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr20:25002600-25006000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr20:25003200-25007000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr20:25003200-25007000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr20:25003400-25007200	Genic enhancers	Lung	lung
38	chr20:25003400-25007800	Genic enhancers	Right Ventricle	heart
39	chr20:25003800-25007200	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr20:25003800-25010800	Weak transcription	Aorta	Aorta
41	chr20:25003800-25012600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr20:25004000-25007600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr20:25004000-25010600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr20:25004000-25012200	Weak transcription	Fetal Heart	heart
45	chr20:25004000-25012600	Weak transcription	Colonic Mucosa	Colon
46	chr20:25004400-25006800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr20:25004400-25010000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr20:25004600-25006200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:25004600-25006200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr20:25004600-25006600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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