Variant report

Variant	rs45469992
Chromosome Location	chr20:24930221-24930222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6083635	1.00[ASN][1000 genomes]
rs7269563	1.00[ASN][1000 genomes]
rs7269564	1.00[ASN][1000 genomes]
rs7352106	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1061536	chr20:24880777-24930642	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv510783	chr20:24889192-24941933	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv524921	chr20:24897355-24932028	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv964444	chr20:24899460-24934649	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2762068	chr20:24908860-24974986	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24928600-24940400	Weak transcription	Right Atrium	heart
2	chr20:24929400-24930400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr20:24929400-24931200	Enhancers	Fetal Thymus	thymus
4	chr20:24929400-24932600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr20:24929400-24933800	Active TSS	Primary B cells from cord blood	blood
6	chr20:24929600-24930400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr20:24929600-24930600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr20:24929600-24931000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:24929600-24931000	Weak transcription	HSMM	muscle
10	chr20:24929600-24936400	Weak transcription	Fetal Intestine Small	intestine
11	chr20:24929800-24930400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr20:24929800-24930400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr20:24929800-24930600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr20:24929800-24930600	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr20:24929800-24930800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:24929800-24930800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:24929800-24930800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr20:24929800-24930800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr20:24929800-24930800	Active TSS	Colonic Mucosa	Colon
20	chr20:24929800-24930800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr20:24929800-24931000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr20:24929800-24931000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr20:24929800-24931000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr20:24929800-24931200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr20:24929800-24931200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr20:24929800-24931200	Active TSS	Esophagus	oesophagus
27	chr20:24929800-24931400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr20:24929800-24931400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr20:24929800-24931600	Active TSS	Duodenum Mucosa	Duodenum
30	chr20:24929800-24931800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr20:24929800-24931800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr20:24930000-24930400	Active TSS	Lung	lung
33	chr20:24930000-24930400	Active TSS	Pancreas	Pancrea
34	chr20:24930000-24930400	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr20:24930000-24930400	Flanking Active TSS	Spleen	Spleen
36	chr20:24930000-24930600	Active TSS	Liver	Liver
37	chr20:24930000-24930600	Active TSS	Fetal Muscle Leg	muscle
38	chr20:24930000-24931000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
39	chr20:24930000-24931200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr20:24930000-24931200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr20:24930000-24931400	Active TSS	Adipose Nuclei	Adipose
42	chr20:24930000-24931600	Active TSS	Gastric	stomach
43	chr20:24930000-24933200	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr20:24930000-24934800	Weak transcription	GM12878-XiMat	blood
45	chr20:24930000-24936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr20:24930200-24930400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr20:24930200-24930600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr20:24930200-24930600	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr20:24930200-24930800	Enhancers	Thymus	Thymus
50	chr20:24930200-24930800	Enhancers	Dnd41	blood

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