Variant report

Variant	rs11090244
Chromosome Location	chr22:23744161-23744162
allele	C/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	YY1	chr22:23744060-23744475	K562	blood:	n/a	chr22:23744349-23744358
2	SMC3	chr22:23743979-23745540	SK-N-SH	brain:	n/a	chr22:23744978-23744992 chr22:23745058-23745068 chr22:23744982-23744992
3	ZBTB7A	chr22:23744091-23744396	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:20255134..20257109-chr22:23743239..23744767,3	MCF-7	breast:
2	chr22:20255606..20257319-chr22:23743223..23746226,3	K562	blood:
3	chr22:20253259..20257319-chr22:23743216..23746275,4	K562	blood:

Variant related genes	Relation type
ZDHHC8P1	TF binding region
ENSG00000040608	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11090245	0.83[EUR][1000 genomes]
rs2016842	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4822394	0.85[EUR][1000 genomes]
rs4822397	0.85[EUR][1000 genomes]
rs4822401	0.85[EUR][1000 genomes]
rs4822404	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5751646	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5751647	0.85[EUR][1000 genomes]
rs5751648	0.85[EUR][1000 genomes]
rs5759766	0.82[EUR][1000 genomes]
rs5759777	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5759780	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5996536	0.94[ASN][1000 genomes]
rs7291873	0.81[EUR][1000 genomes]
rs9608142	0.85[EUR][1000 genomes]
rs9612343	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS 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 miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	esv2762117	chr22:23592136-23996869	Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1063476	chr22:23596683-23989388	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv544617	chr22:23596683-23989388	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv1059951	chr22:23597270-23973060	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1060339	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv544618	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv1059384	chr22:23614429-23984195	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv544619	chr22:23614429-23984195	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv588601	chr22:23632665-23979219	Bivalent Enhancer Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv914579	chr22:23650987-23995056	Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv1057910	chr22:23704457-23750847	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv914580	chr22:23720420-23757964	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv914581	chr22:23720420-23995056	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	nsv914582	chr22:23723721-23750847	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv914583	chr22:23723721-23752398	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv829099	chr22:23726903-23747505	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv914584	chr22:23729698-23774625	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	esv3438074	chr22:23743477-23746325	Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv469702	chr22:23743640-23890756	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv482382	chr22:23743640-23890756	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23726800-23744200	Weak transcription	Brain Anterior Caudate	brain
2	chr22:23728600-23744200	Weak transcription	Brain Angular Gyrus	brain
3	chr22:23728600-23744200	Weak transcription	Brain Hippocampus Middle	brain
4	chr22:23737800-23744200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:23738600-23744400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:23738800-23744200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr22:23738800-23744400	Weak transcription	Fetal Thymus	thymus
8	chr22:23738800-23746400	Enhancers	Fetal Brain Male	brain
9	chr22:23739400-23744200	Weak transcription	Pancreas	Pancrea
10	chr22:23740800-23744200	Weak transcription	Fetal Stomach	stomach
11	chr22:23741400-23744200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:23741600-23744200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:23741600-23745000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:23742400-23744200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr22:23742400-23744400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:23742600-23744400	Weak transcription	Esophagus	oesophagus
17	chr22:23742800-23744200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:23742800-23744400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:23742800-23744400	Enhancers	NH-A	brain
20	chr22:23743000-23744600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:23743400-23744200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:23743400-23744200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr22:23743400-23744400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:23743600-23744200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr22:23743600-23744200	Enhancers	Brain Cingulate Gyrus	brain
26	chr22:23743600-23744200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr22:23743600-23744200	Enhancers	Fetal Intestine Small	intestine
28	chr22:23743600-23744600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:23743600-23744600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr22:23743600-23744800	Flanking Active TSS	HMEC	breast
31	chr22:23743800-23744200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:23743800-23744200	Active TSS	Fetal Brain Female	brain
33	chr22:23743800-23744200	Enhancers	Ovary	ovary
34	chr22:23744000-23744200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr22:23744000-23744200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:23744000-23744200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr22:23744000-23744200	Enhancers	NHEK	skin
38	chr22:23744000-23744400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr22:23744000-23744400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:23744000-23744600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:23744000-23744600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr22:23744000-23744600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:23744000-23744600	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr22:23744000-23744600	Flanking Active TSS	Placenta	Placenta
45	chr22:23744000-23744800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:23744000-23745200	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr22:23744000-23745200	Enhancers	Spleen	Spleen
48	chr22:23744000-23745200	Active TSS	A549	lung
49	chr22:23744000-23745400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr22:23744000-23745400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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