Variant report

Variant	esv3512715
Chromosome Location	chr22:30335602-30338200
allele	n/a
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	CHD1	chr22:30337298-30337745	IMR90	lung:	n/a	n/a
2	KAP1	chr22:30337138-30337655	K562	blood:	n/a	n/a
3	MAFK	chr22:30337105-30337357	HepG2	liver:	n/a	chr22:30337236-30337251
4	MAFK	chr22:30337154-30337364	IMR90	lung:	n/a	chr22:30337236-30337251
5	MAFK	chr22:30337102-30337384	HepG2	liver:	n/a	chr22:30337236-30337251
6	MYC	chr22:30336636-30336819	MCF10A-Er-Src	breast:	n/a	chr22:30336684-30336693
7	POLR2A	chr22:30336355-30336489	H1-hESC	embryonic stem cell:	n/a	n/a
8	SETDB1	chr22:30335529-30335973	U2OS	brain:	n/a	n/a
9	SETDB1	chr22:30337963-30338723	U2OS	brain:	n/a	n/a
10	TBP	chr22:30337535-30337595	GM12878	blood:	n/a	n/a
11	USF1	chr22:30338155-30338370	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000221736	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571222470	chr22:30335612-30335613	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533807468	chr22:30335617-30335618	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549037093	chr22:30335655-30335656	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186206583	chr22:30335660-30335661	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555944592	chr22:30335679-30335680	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531578953	chr22:30335685-30335686	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370216196	chr22:30335744-30335745	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143042407	chr22:30335754-30335755	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571319728	chr22:30335769-30335770	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs111421404	chr22:30335821-30335822	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs148190215	chr22:30335825-30335826	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs553764775	chr22:30335855-30335856	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575794523	chr22:30335893-30335894	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs111908292	chr22:30335903-30335904	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535377976	chr22:30335906-30335907	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555832819	chr22:30335912-30335913	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs574167773	chr22:30335931-30335932	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544358624	chr22:30335939-30335940	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs556361075	chr22:30335947-30335948	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs567511517	chr22:30335953-30335954	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs545134157	chr22:30335966-30335967	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs372868608	chr22:30336038-30336039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150482687	chr22:30336044-30336045	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576376574	chr22:30336051-30336052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs574769158	chr22:30336100-30336101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs9680595	chr22:30336113-30336114	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs560986692	chr22:30336116-30336117	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs191501433	chr22:30336130-30336131	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs36597	chr22:30336150-30336151	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs9625889	chr22:30336151-30336152	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113140876	chr22:30336169-30336170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs547201334	chr22:30336188-30336189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs565666600	chr22:30336205-30336206	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs563090714	chr22:30336206-30336207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs535908074	chr22:30336211-30336212	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs548177793	chr22:30336223-30336224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567816376	chr22:30336232-30336233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538163870	chr22:30336251-30336252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs6006305	chr22:30336279-30336280	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577846371	chr22:30336292-30336293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531913166	chr22:30336322-30336323	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538745627	chr22:30336343-30336344	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs149372283	chr22:30336356-30336357	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs36598	chr22:30336406-30336407	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs5763621	chr22:30336413-30336414	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs572801352	chr22:30336427-30336428	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs542611981	chr22:30336463-30336464	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs144700943	chr22:30336496-30336497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576368898	chr22:30336502-30336503	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs116283017	chr22:30336503-30336504	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:30311800-30340400	Weak transcription	HSMM	muscle
3	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
5	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
7	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:30321400-30339800	Weak transcription	Lung	lung
9	chr22:30324400-30337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
11	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr22:30330600-30339400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:30330600-30342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:30331600-30336600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr22:30331600-30339800	Weak transcription	Ovary	ovary
17	chr22:30332000-30342200	Weak transcription	Gastric	stomach
18	chr22:30332400-30337200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:30332600-30336600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr22:30332600-30337000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr22:30332600-30339800	Weak transcription	Left Ventricle	heart
22	chr22:30332600-30345000	Weak transcription	Pancreas	Pancrea
23	chr22:30332600-30347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:30332800-30340200	Weak transcription	Stomach Mucosa	stomach
25	chr22:30332800-30341000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr22:30332800-30343800	Weak transcription	Adipose Nuclei	Adipose
27	chr22:30333600-30343600	Weak transcription	Brain Anterior Caudate	brain
28	chr22:30334200-30336600	Weak transcription	Brain Substantia Nigra	brain
29	chr22:30334200-30337400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr22:30334200-30341000	Weak transcription	Right Atrium	heart
31	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
32	chr22:30334400-30341200	Weak transcription	Brain Hippocampus Middle	brain
33	chr22:30334600-30336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr22:30334600-30337800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:30334600-30340000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:30334600-30340400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr22:30334600-30341000	Weak transcription	Psoas Muscle	Psoas
38	chr22:30334600-30341000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr22:30334800-30337200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr22:30334800-30340000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr22:30335000-30340000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr22:30335400-30336000	Enhancers	Duodenum Mucosa	Duodenum
43	chr22:30335600-30335800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr22:30335600-30338200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:30335800-30341000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr22:30336400-30339800	Weak transcription	Spleen	Spleen
47	chr22:30336600-30337000	Enhancers	Brain Substantia Nigra	brain
48	chr22:30336600-30337400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr22:30336600-30337600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:30336800-30337600	Enhancers	Skeletal Muscle Female	skeletal muscle

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