Variant report

Variant	rs17883954
Chromosome Location	chr22:29083326-29083327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10084639	1.00[ASN][1000 genomes]
rs10222318	1.00[ASN][1000 genomes]
rs10439931	1.00[ASN][1000 genomes]
rs10483150	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12165893	1.00[ASN][1000 genomes]
rs12166245	1.00[ASN][1000 genomes]
rs12167434	1.00[ASN][1000 genomes]
rs12167614	1.00[ASN][1000 genomes]
rs12168031	1.00[ASN][1000 genomes]
rs12168765	1.00[ASN][1000 genomes]
rs12169071	1.00[ASN][1000 genomes]
rs12169120	1.00[ASN][1000 genomes]
rs12169262	1.00[ASN][1000 genomes]
rs12169460	1.00[ASN][1000 genomes]
rs12169880	1.00[ASN][1000 genomes]
rs12171099	1.00[ASN][1000 genomes]
rs16986400	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16986433	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16986438	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16986451	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16986469	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16986502	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17883639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17886970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28818228	1.00[ASN][1000 genomes]
rs35438111	1.00[AMR][1000 genomes]
rs58049055	1.00[ASN][1000 genomes]
rs58542867	1.00[ASN][1000 genomes]
rs60065194	1.00[ASN][1000 genomes]
rs60248971	1.00[ASN][1000 genomes]
rs60693420	1.00[ASN][1000 genomes]
rs6519758	1.00[ASN][1000 genomes]
rs7288792	1.00[ASN][1000 genomes]
rs7289534	1.00[ASN][1000 genomes]
rs7293232	1.00[ASN][1000 genomes]
rs73430168	1.00[ASN][1000 genomes]
rs73430179	1.00[ASN][1000 genomes]
rs73430189	1.00[ASN][1000 genomes]
rs73432205	1.00[ASN][1000 genomes]
rs8135424	1.00[ASN][1000 genomes]
rs8136767	1.00[ASN][1000 genomes]
rs8136995	1.00[ASN][1000 genomes]
rs8142681	1.00[ASN][1000 genomes]
rs9620810	1.00[ASN][1000 genomes]
rs9620811	1.00[ASN][1000 genomes]
rs9625509	1.00[ASN][1000 genomes]
rs9625512	1.00[ASN][1000 genomes]
rs9625513	1.00[ASN][1000 genomes]
rs9625514	1.00[ASN][1000 genomes]
rs9625518	1.00[ASN][1000 genomes]
rs9625520	1.00[ASN][1000 genomes]
rs9625521	1.00[ASN][1000 genomes]
rs9625522	1.00[ASN][1000 genomes]
rs9625523	1.00[ASN][1000 genomes]
rs9625524	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1061684	chr22:29026341-29088590	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv966098	chr22:29069640-29088208	Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv966097	chr22:29069640-29092062	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1832949	chr22:29072426-29092190	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1806615	chr22:29072426-29095085	Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1828355	chr22:29072426-29095085	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1843637	chr22:29072426-29095085	Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1832454	chr22:29074021-29094885	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29076200-29089200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:29076200-29103000	Weak transcription	GM12878-XiMat	blood
3	chr22:29076200-29137600	Weak transcription	Esophagus	oesophagus
4	chr22:29076400-29084200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:29076400-29085200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:29076400-29085400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:29076400-29085800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:29076400-29088400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:29076400-29088600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:29076400-29092800	Weak transcription	Primary B cells from cord blood	blood
11	chr22:29076400-29098000	Weak transcription	Ovary	ovary
12	chr22:29076400-29099400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:29076400-29102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:29076400-29103000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:29076400-29105000	Weak transcription	HUVEC	blood vessel
16	chr22:29076400-29105200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:29076400-29105800	Weak transcription	NHLF	lung
18	chr22:29076400-29119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:29076400-29129400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr22:29076600-29085200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:29076600-29089400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:29076600-29094400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr22:29076600-29102200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:29077200-29105000	Weak transcription	Osteobl	bone
25	chr22:29077400-29102000	Weak transcription	Fetal Intestine Large	intestine
26	chr22:29077400-29106000	Weak transcription	A549	lung
27	chr22:29077600-29099000	Weak transcription	Hela-S3	cervix
28	chr22:29077600-29102800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:29079000-29089200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr22:29079600-29130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr22:29079800-29089200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr22:29079800-29089200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr22:29080200-29087200	Weak transcription	Fetal Intestine Small	intestine
34	chr22:29080600-29092000	Weak transcription	NHEK	skin
35	chr22:29081200-29089400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr22:29081600-29089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:29082000-29083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:29082200-29083600	Strong transcription	Dnd41	blood
39	chr22:29082200-29086400	Strong transcription	Fetal Stomach	stomach
40	chr22:29082200-29109800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:29082400-29083600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:29082400-29083800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:29082600-29083400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr22:29082600-29083600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr22:29082600-29084000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr22:29082600-29084000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:29082600-29086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:29082600-29089200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr22:29082600-29092200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr22:29082800-29083600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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