Variant report

Variant	rs17507066
Chromosome Location	chr22:29092720-29092721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29090716..29093047-chr22:29154418..29156765,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12165715	0.83[CEU][hapmap]
rs12165893	0.83[CEU][hapmap]
rs12166245	0.83[CEU][hapmap]
rs12168765	0.80[CEU][hapmap]
rs12169262	0.83[CEU][hapmap]
rs12169460	0.83[CEU][hapmap]
rs1474961	1.00[CEU][hapmap]
rs16986509	0.91[CEU][hapmap]
rs17880096	1.00[ASN][1000 genomes]
rs17882607	0.82[EUR][1000 genomes]
rs17885892	0.82[EUR][1000 genomes]
rs2013784	0.83[CEU][hapmap]
rs2144922	0.83[CEU][hapmap]
rs3788408	0.82[EUR][1000 genomes]
rs6005807	0.91[CEU][hapmap]
rs7288040	0.86[EUR][1000 genomes]
rs7289534	0.83[CEU][hapmap]
rs7289625	0.83[CEU][hapmap]
rs7291268	0.91[CEU][hapmap]
rs7293232	0.83[CEU][hapmap]
rs9306457	0.91[CEU][hapmap]
rs9608696	0.83[CEU][hapmap]
rs9620797	0.90[CEU][hapmap]
rs9620804	0.91[CEU][hapmap]
rs9620808	0.83[CEU][hapmap]
rs9620810	0.83[CEU][hapmap]
rs9620811	0.83[CEU][hapmap]
rs9620817	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs9625512	0.83[CEU][hapmap]
rs9625513	0.83[CEU][hapmap]
rs9625520	0.83[CEU][hapmap]
rs9625521	0.83[CEU][hapmap]
rs9625522	0.83[CEU][hapmap]
rs9625523	0.83[CEU][hapmap]
rs9625524	0.83[CEU][hapmap]
rs9625534	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625545	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
9	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
10	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
11	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
12	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
13	esv3381407	chr22:29089852-29092950	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3366147	chr22:29090152-29092950	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 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	chr22:29076400-29092800	Weak transcription	Primary B cells from cord blood	blood
4	chr22:29076400-29098000	Weak transcription	Ovary	ovary
5	chr22:29076400-29099400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:29076400-29102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:29076400-29103000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr22:29076400-29105000	Weak transcription	HUVEC	blood vessel
9	chr22:29076400-29105200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:29076400-29105800	Weak transcription	NHLF	lung
11	chr22:29076400-29119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:29076400-29129400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr22:29076600-29094400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr22:29076600-29102200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:29077200-29105000	Weak transcription	Osteobl	bone
16	chr22:29077400-29102000	Weak transcription	Fetal Intestine Large	intestine
17	chr22:29077400-29106000	Weak transcription	A549	lung
18	chr22:29077600-29099000	Weak transcription	Hela-S3	cervix
19	chr22:29077600-29102800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:29079600-29130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:29082200-29109800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:29082800-29106000	Weak transcription	Liver	Liver
23	chr22:29082800-29137600	Weak transcription	Spleen	Spleen
24	chr22:29083000-29126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:29083600-29094200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:29083600-29094800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:29083600-29104000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:29084200-29099000	Weak transcription	Fetal Thymus	thymus
29	chr22:29084600-29097800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr22:29085000-29116600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr22:29085800-29102200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:29085800-29105000	Weak transcription	HMEC	breast
33	chr22:29086200-29106600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr22:29086400-29106000	Weak transcription	HSMM	muscle
35	chr22:29086600-29096000	Weak transcription	Primary T cells from cord blood	blood
36	chr22:29087000-29096000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr22:29087200-29093200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr22:29087800-29094000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr22:29087800-29106200	Weak transcription	Fetal Lung	lung
40	chr22:29088400-29093400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr22:29088600-29118600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr22:29089200-29094400	Weak transcription	Thymus	Thymus
43	chr22:29089200-29096000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:29089600-29100400	Weak transcription	Lung	lung
45	chr22:29089800-29094400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr22:29089800-29094400	Weak transcription	Fetal Muscle Leg	muscle
47	chr22:29090200-29129000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr22:29090400-29093600	Weak transcription	Fetal Stomach	stomach
49	chr22:29090400-29094600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:29090400-29094600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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