Variant report

Variant	rs17759568
Chromosome Location	chr22:22110627-22110628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22107700..22110660-chr22:22291267..22295337,4	K562	blood:
2	chr22:22067175..22068130-chr22:22109893..22111057,3	K562	blood:
3	chr22:22105462..22113416-chr22:22219449..22224505,14	K562	blood:
4	chr22:22108974..22111937-chr22:22177165..22178956,2	K562	blood:
5	chr22:22109446..22111678-chr22:22212530..22215943,3	K562	blood:
6	chr22:21983705..21985362-chr22:22109794..22111442,2	MCF-7	breast:
7	chr22:22108696..22111013-chr22:22279549..22284979,5	K562	blood:
8	chr22:22087745..22091288-chr22:22108991..22112172,3	MCF-7	breast:
9	chr22:22066089..22068465-chr22:22108326..22110815,2	K562	blood:
10	chr22:22001036..22002696-chr22:22109195..22111592,2	K562	blood:
11	chr22:22110435..22112750-chr22:22276025..22277904,2	K562	blood:
12	chr22:22109453..22112191-chr22:22307233..22308989,2	K562	blood:
13	chr22:22104264..22113416-chr22:22217620..22224505,20	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100034	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11912710	0.91[AFR][1000 genomes]
rs11913240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11913453	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11914029	0.91[AFR][1000 genomes]
rs2276008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34431893	0.84[AFR][1000 genomes]
rs55899028	0.84[AFR][1000 genomes]
rs56070517	0.84[AFR][1000 genomes]
rs56888084	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749811	1.00[YRI][hapmap]
rs57917247	0.83[AFR][1000 genomes]
rs57972001	0.91[AFR][1000 genomes]
rs58437134	0.91[AFR][1000 genomes]
rs58549474	0.84[AFR][1000 genomes]
rs59520604	0.91[AFR][1000 genomes]
rs6000009	1.00[CEU][hapmap]
rs61348040	0.84[AFR][1000 genomes]
rs61387590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61422770	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61757984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66471117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66805823	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285260	1.00[CEU][hapmap]
rs73149943	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73149944	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73382365	0.84[AFR][1000 genomes]
rs73384128	0.84[AFR][1000 genomes]
rs73386248	0.91[AFR][1000 genomes]
rs73386249	0.91[AFR][1000 genomes]
rs743411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8141815	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
2	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
3	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
4	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
7	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
8	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1060548	chr22:22079163-22126826	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv531549	chr22:22082380-22116681	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
18	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22090800-22111000	Weak transcription	Primary T cells from cord blood	blood
2	chr22:22090800-22115800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:22091000-22110800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr22:22091000-22111200	Weak transcription	Pancreas	Pancrea
5	chr22:22091000-22112600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr22:22091000-22116600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr22:22092800-22115400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:22098400-22117400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:22103000-22115400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr22:22103400-22112600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:22104800-22110800	Weak transcription	Thymus	Thymus
12	chr22:22104800-22112400	Weak transcription	Dnd41	blood
13	chr22:22105000-22110800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr22:22105400-22112600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:22105800-22111400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr22:22105800-22111400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr22:22105800-22111600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:22105800-22118000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr22:22106000-22112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr22:22106200-22111600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:22107200-22111000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:22107600-22111600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr22:22108000-22110800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr22:22108000-22111200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:22108400-22110800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:22108400-22111000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:22108400-22111200	Weak transcription	Aorta	Aorta
28	chr22:22108600-22110800	Enhancers	Fetal Lung	lung
29	chr22:22108600-22111200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:22108800-22110800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:22108800-22111200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:22108800-22111200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr22:22108800-22111200	Enhancers	GM12878-XiMat	blood
34	chr22:22108800-22111400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr22:22109000-22110800	Enhancers	HSMMtube	muscle
36	chr22:22109000-22112600	Weak transcription	Colonic Mucosa	Colon
37	chr22:22109200-22110800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr22:22109200-22110800	Enhancers	HepG2	liver
39	chr22:22109200-22111000	Enhancers	HSMM	muscle
40	chr22:22109200-22111200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:22109200-22111200	Weak transcription	Lung	lung
42	chr22:22109200-22112400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr22:22109200-22115200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr22:22109400-22111200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:22109400-22111200	Weak transcription	Spleen	Spleen
46	chr22:22109400-22111600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:22109400-22125800	Weak transcription	Small Intestine	intestine
48	chr22:22109600-22110800	Enhancers	Brain Hippocampus Middle	brain
49	chr22:22109600-22111000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:22109600-22111200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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