Variant report

Variant	rs112640972
Chromosome Location	chr22:22090649-22090650
allele	A/T
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	E2F6	chr22:22089811-22090846	H1-hESC	embryonic stem cell:	n/a	chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467
2	POLR2A	chr22:22090233-22090669	ECC-1	luminal epithelium:	n/a	n/a
3	FOS	chr22:22089848-22090708	K562	blood:	n/a	chr22:22090305-22090314 chr22:22090134-22090143
4	SIN3A	chr22:22089430-22090837	H1-hESC	embryonic stem cell:	n/a	chr22:22090464-22090477 chr22:22089870-22089881 chr22:22089868-22089881
5	E2F6	chr22:22089802-22090971	H1-hESC	embryonic stem cell:	n/a	chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467
6	NRF1	chr22:22089628-22090826	SK-N-SH	brain:	n/a	chr22:22089865-22089876 chr22:22089788-22089797
7	CCNT2	chr22:22089241-22090907	K562	blood:	n/a	n/a
8	STAT5A	chr22:22088720-22090934	K562	blood:	n/a	n/a
9	IRF1	chr22:22089553-22090823	K562	blood:	n/a	chr22:22090132-22090141 chr22:22090307-22090316
10	ZBTB7A	chr22:22089568-22090947	K562	blood:	n/a	n/a
11	POLR2A	chr22:22090368-22090744	U87	brain:	n/a	n/a
12	SIN3AK20	chr22:22089910-22090673	SK-N-SH	brain:	n/a	n/a
13	E2F6	chr22:22089738-22090844	A549	lung:	n/a	chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797
14	TBP	chr22:22089793-22090791	H1-hESC	embryonic stem cell:	n/a	n/a
15	NR2F2	chr22:22088822-22091029	K562	blood:	n/a	n/a
16	POLR2A	chr22:22089702-22090898	H1-hESC	embryonic stem cell:	n/a	n/a
17	TBP	chr22:22089515-22090677	K562	blood:	n/a	n/a
18	HEY1	chr22:22090266-22090902	K562	blood:	n/a	chr22:22090279-22090288 chr22:22090287-22090302 chr22:22090417-22090432
19	YY1	chr22:22089559-22090937	K562	blood:	n/a	chr22:22090458-22090472 chr22:22090319-22090333 chr22:22089785-22089794
20	POLR2A	chr22:22089615-22090729	HL-60	blood:	n/a	n/a
21	HDAC2	chr22:22088270-22091060	K562	blood:	n/a	chr22:22089204-22089218 chr22:22089201-22089215
22	TAF1	chr22:22090342-22090710	H1-hESC	embryonic stem cell:	n/a	n/a
23	THAP1	chr22:22089592-22090953	K562	blood:	n/a	n/a
24	PML	chr22:22088766-22090970	K562	blood:	n/a	n/a
25	REST	chr22:22088943-22090976	H1-neurons	neurons:	n/a	chr22:22090521-22090534 chr22:22090810-22090823 chr22:22090813-22090826 chr22:22090467-22090480 chr22:22089868-22089881
26	MXI1	chr22:22089624-22090801	IMR90	lung:	n/a	n/a
27	ETS1	chr22:22089518-22090971	K562	blood:	n/a	chr22:22089785-22089796 chr22:22089649-22089660 chr22:22089788-22089799
28	HDAC2	chr22:22089577-22090737	K562	blood:	n/a	n/a
29	ETS1	chr22:22089537-22090949	K562	blood:	n/a	chr22:22089785-22089796 chr22:22089649-22089660 chr22:22089788-22089799
30	CHD2	chr22:22089940-22090765	H1-hESC	embryonic stem cell:	n/a	n/a
31	TBL1XR1	chr22:22089495-22090825	K562	blood:	n/a	n/a
32	CBX3	chr22:22089254-22090916	K562	blood:	n/a	n/a
33	RCOR1	chr22:22088965-22090842	K562	blood:	n/a	n/a
34	MAX	chr22:22089600-22090688	HepG2	liver:	n/a	chr22:22090280-22090287 chr22:22089787-22089797 chr22:22090279-22090288 chr22:22090278-22090288 chr22:22090278-22090289
35	NR2F2	chr22:22088640-22091639	K562	blood:	n/a	n/a
36	POLR2A	chr22:22089819-22090675	IMR90	lung:	n/a	n/a
37	SETDB1	chr22:22089692-22090906	K562	blood:	n/a	n/a
38	POLR2A	chr22:22089593-22090710	H1-neurons	neurons:	n/a	n/a
39	HCFC1	chr22:22089411-22090833	K562	blood:	n/a	n/a
40	ZC3H11A	chr22:22089346-22090670	K562	blood:	n/a	n/a
41	MYC	chr22:22089713-22090701	K562	blood:	n/a	chr22:22090280-22090287 chr22:22089787-22089797 chr22:22090279-22090288 chr22:22090278-22090288 chr22:22090278-22090289
42	MAX	chr22:22089572-22090912	ECC-1	luminal epithelium:	n/a	chr22:22090902-22090911 chr22:22090280-22090287 chr22:22089787-22089797 chr22:22090279-22090288 chr22:22090278-22090288 chr22:22090278-22090289
43	TAF1	chr22:22090170-22090678	K562	blood:	n/a	n/a
44	POLR2A	chr22:22089825-22090684	HUVEC	blood vessel:	n/a	n/a
45	THAP1	chr22:22090126-22090655	K562	blood:	n/a	n/a
46	POLR2A	chr22:22089683-22090767	K562	blood:	n/a	n/a
47	RCOR1	chr22:22088977-22090782	K562	blood:	n/a	n/a
48	YY1	chr22:22089286-22090750	K562	blood:	n/a	chr22:22090458-22090472 chr22:22090319-22090333 chr22:22089785-22089794
49	E2F6	chr22:22089364-22090730	K562	blood:	n/a	chr22:22089628-22089640 chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797
50	TAF7	chr22:22090226-22090711	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22087956..22092439-chr22:22291559..22296073,7	K562	blood:
2	chr22:22088558..22091426-chr22:22293514..22295248,2	K562	blood:
3	chr22:22076308..22077911-chr22:22088836..22091303,2	MCF-7	breast:
4	chr22:22089287..22091003-chr22:22220400..22222429,2	MCF-7	breast:
5	chr22:22026397..22028078-chr22:22088852..22091514,2	MCF-7	breast:
6	chr22:22004165..22007450-chr22:22088545..22091929,3	K562	blood:
7	chr22:22088248..22093129-chr22:22216287..22223699,14	K562	blood:
8	chr22:21983948..21987333-chr22:22088191..22091412,3	K562	blood:
9	chr22:22088545..22090754-chr22:22292290..22294479,2	MCF-7	breast:
10	chr22:22089192..22091927-chr22:22279825..22282512,2	K562	blood:
11	chr22:22088723..22091421-chr22:22896178..22899037,2	K562	blood:
12	chr22:21995824..21997937-chr22:22089395..22092110,2	MCF-7	breast:
13	chr22:22090180..22091326-chr22:22292264..22293608,4	K562	blood:
14	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
15	chr22:22019023..22020752-chr22:22089369..22093678,3	K562	blood:
16	chr22:22090286..22091894-chr22:22213594..22215383,2	K562	blood:
17	chr22:22089106..22092560-chr22:22306070..22309716,3	K562	blood:
18	chr22:22090396..22092560-chr22:22305855..22308907,4	K562	blood:

Variant related genes	Relation type
YPEL1	TF binding region
ENSG00000161179	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000161180	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000212102	Chromatin interaction
ENSG00000244671	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv3437266	chr22:22088777-22091525	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
19	esv3380983	chr22:22089102-22091350	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22088800-22090800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr22:22088800-22090800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:22088800-22091000	Active TSS	Rectal Smooth Muscle	rectum
4	chr22:22088800-22091000	Active TSS	HSMM	muscle
5	chr22:22089000-22090800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr22:22089000-22090800	Active TSS	Ovary	ovary
7	chr22:22089000-22091000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:22089200-22090800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr22:22089200-22090800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:22089200-22090800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr22:22089200-22090800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:22089200-22090800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:22089200-22090800	Active TSS	Brain Germinal Matrix	brain
14	chr22:22089200-22090800	Active TSS	Fetal Kidney	kidney
15	chr22:22089200-22090800	Active TSS	Left Ventricle	heart
16	chr22:22089200-22090800	Active TSS	Psoas Muscle	Psoas
17	chr22:22089200-22091000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:22089200-22091000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr22:22089200-22091000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:22089200-22091000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:22089200-22091000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr22:22089200-22091000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:22089200-22091000	Active TSS	Brain Angular Gyrus	brain
24	chr22:22089200-22091000	Active TSS	A549	lung
25	chr22:22089200-22091200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:22089400-22090800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr22:22089400-22090800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr22:22089400-22090800	Active TSS	Aorta	Aorta
29	chr22:22089400-22090800	Active TSS	HSMMtube	muscle
30	chr22:22089400-22091000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:22089400-22091000	Active TSS	Brain Hippocampus Middle	brain
32	chr22:22089400-22091000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr22:22089400-22091000	Active TSS	Fetal Brain Female	brain
34	chr22:22089400-22091000	Active TSS	Stomach Smooth Muscle	stomach
35	chr22:22089600-22090800	Active TSS	Primary T cells from cord blood	blood
36	chr22:22089600-22090800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:22089600-22090800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr22:22089600-22090800	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr22:22089600-22090800	Active TSS	Brain Anterior Caudate	brain
40	chr22:22089600-22090800	Active TSS	Brain Substantia Nigra	brain
41	chr22:22089600-22090800	Active TSS	Colon Smooth Muscle	Colon
42	chr22:22089600-22090800	Active TSS	HUVEC	blood vessel
43	chr22:22089600-22090800	Active TSS	NHDF-Ad	bronchial
44	chr22:22089600-22091000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:22089600-22091000	Active TSS	Brain Cingulate Gyrus	brain
46	chr22:22089600-22091000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:22089600-22091000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr22:22089600-22091000	Active TSS	Placenta Amnion	Placenta Amnion
49	chr22:22089600-22091000	Active TSS	NH-A	brain
50	chr22:22089800-22090800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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