Variant report

Variant	rs17886970
Chromosome Location	chr22:29085414-29085415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RXRA	chr22:29085034-29085440	HepG2	liver:	n/a	n/a
2	SP1	chr22:29085064-29085493	HepG2	liver:	n/a	n/a
3	POU2F2	chr22:29085085-29085564	GM12878	blood:	n/a	chr22:29085482-29085497
4	SIX5	chr22:29085300-29085516	K562	blood:	n/a	n/a

Variant related genes	Relation type
CHEK2	TF binding region

Extended variants
information (count: 72 )
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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17883954	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:17 , 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
16	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
17	nsv962851	chr22:29084213-29088208	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 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	chr22:29076400-29085800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:29076400-29088400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:29076400-29088600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:29076400-29092800	Weak transcription	Primary B cells from cord blood	blood
8	chr22:29076400-29098000	Weak transcription	Ovary	ovary
9	chr22:29076400-29099400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:29076400-29102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:29076400-29103000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr22:29076400-29105000	Weak transcription	HUVEC	blood vessel
13	chr22:29076400-29105200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:29076400-29105800	Weak transcription	NHLF	lung
15	chr22:29076400-29119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:29076400-29129400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr22:29076600-29089400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:29076600-29094400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr22:29076600-29102200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr22:29077200-29105000	Weak transcription	Osteobl	bone
21	chr22:29077400-29102000	Weak transcription	Fetal Intestine Large	intestine
22	chr22:29077400-29106000	Weak transcription	A549	lung
23	chr22:29077600-29099000	Weak transcription	Hela-S3	cervix
24	chr22:29077600-29102800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:29079000-29089200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:29079600-29130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr22:29079800-29089200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr22:29079800-29089200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr22:29080200-29087200	Weak transcription	Fetal Intestine Small	intestine
30	chr22:29080600-29092000	Weak transcription	NHEK	skin
31	chr22:29081200-29089400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr22:29081600-29089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:29082200-29086400	Strong transcription	Fetal Stomach	stomach
34	chr22:29082200-29109800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr22:29082600-29086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29082600-29089200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr22:29082600-29092200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr22:29082800-29092000	Weak transcription	HepG2	liver
39	chr22:29082800-29106000	Weak transcription	Liver	Liver
40	chr22:29082800-29137600	Weak transcription	Spleen	Spleen
41	chr22:29083000-29089400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:29083000-29126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:29083400-29086000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:29083400-29089200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr22:29083600-29085800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:29083600-29088400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr22:29083600-29089200	Weak transcription	Fetal Muscle Leg	muscle
48	chr22:29083600-29094200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr22:29083600-29094800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:29083600-29104000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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