Variant report

Variant	rs4490290
Chromosome Location	chr22:29102117-29102118
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:17)

rs_ID	r²[population]
rs12628239	0.83[AMR][1000 genomes]
rs1547014	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1807477	0.82[EUR][1000 genomes]
rs1972202	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4352308	0.80[ASN][1000 genomes]
rs5752773	0.88[AMR][1000 genomes]
rs5752774	0.83[AMR][1000 genomes]
rs5752775	0.81[AMR][1000 genomes]
rs5762746	0.82[EUR][1000 genomes]
rs5762749	0.83[EUR][1000 genomes]
rs5762752	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762753	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762760	0.82[EUR][1000 genomes]
rs6005840	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs743184	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9613665	0.83[EUR][1000 genomes]
rs9625533	0.82[EUR][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	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS 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 miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1064624	chr22:29065528-29130728	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	esv17527	chr22:29066121-29102976	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv513775	chr22:29083731-29137822	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29076200-29103000	Weak transcription	GM12878-XiMat	blood
2	chr22:29076200-29137600	Weak transcription	Esophagus	oesophagus
3	chr22:29076400-29103000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr22:29076400-29105000	Weak transcription	HUVEC	blood vessel
5	chr22:29076400-29105200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:29076400-29105800	Weak transcription	NHLF	lung
7	chr22:29076400-29119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:29076400-29129400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:29076600-29102200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:29077200-29105000	Weak transcription	Osteobl	bone
11	chr22:29077400-29106000	Weak transcription	A549	lung
12	chr22:29077600-29102800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:29079600-29130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:29082200-29109800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr22:29082800-29106000	Weak transcription	Liver	Liver
16	chr22:29082800-29137600	Weak transcription	Spleen	Spleen
17	chr22:29083000-29126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:29083600-29104000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:29085000-29116600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr22:29085800-29102200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:29085800-29105000	Weak transcription	HMEC	breast
22	chr22:29086200-29106600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:29086400-29106000	Weak transcription	HSMM	muscle
24	chr22:29087800-29106200	Weak transcription	Fetal Lung	lung
25	chr22:29088600-29118600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr22:29090200-29129000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr22:29090400-29106000	Weak transcription	HSMMtube	muscle
28	chr22:29090400-29110800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:29090600-29137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:29090600-29137200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr22:29090800-29108000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr22:29091000-29104000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr22:29091000-29116600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:29091000-29120200	Weak transcription	Placenta	Placenta
35	chr22:29092000-29108600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29092600-29106200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr22:29093200-29103000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr22:29093600-29121800	Weak transcription	Small Intestine	intestine
39	chr22:29093600-29132000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr22:29093800-29126600	Weak transcription	Gastric	stomach
41	chr22:29094600-29125000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:29095200-29102200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:29095200-29114600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:29096000-29106200	Weak transcription	Fetal Muscle Leg	muscle
45	chr22:29096200-29103000	Weak transcription	Primary T cells from cord blood	blood
46	chr22:29096600-29106200	Weak transcription	K562	blood
47	chr22:29097000-29130800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr22:29097200-29105000	Strong transcription	Fetal Stomach	stomach
49	chr22:29098000-29102200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr22:29098400-29105800	Weak transcription	NHDF-Ad	bronchial

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