Variant report

Variant	nsv964710
Chromosome Location	chr22:33523824-33537645
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	ARID3A	chr22:33526447-33526746	HepG2	liver:	n/a	n/a
2	CEBPB	chr22:33526487-33526752	MCF-7	breast:	n/a	n/a
3	CEBPB	chr22:33526397-33526773	HepG2	liver:	n/a	n/a
4	CEBPB	chr22:33526389-33526772	HepG2	liver:	n/a	n/a
5	CEBPB	chr22:33526357-33526773	HepG2	liver:	n/a	n/a
6	CEBPB	chr22:33526476-33526683	HepG2	liver:	n/a	n/a
7	CTCF	chr22:33536095-33536236	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr22:33535999-33536222	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr22:33526352-33526765	HepG2	liver:	n/a	n/a
10	EP300	chr22:33526405-33526858	HepG2	liver:	n/a	n/a
11	EP300	chr22:33526499-33526711	HepG2	liver:	n/a	n/a
12	FOXA1	chr22:33534151-33534466	HepG2	liver:	n/a	n/a
13	FOXA1	chr22:33526290-33526820	HepG2	liver:	n/a	chr22:33526647-33526659
14	FOXA1	chr22:33526384-33526774	HepG2	liver:	n/a	chr22:33526647-33526659
15	FOXA1	chr22:33526355-33526860	HepG2	liver:	n/a	chr22:33526647-33526659
16	FOXA1	chr22:33534193-33534455	HepG2	liver:	n/a	n/a
17	FOXA1	chr22:33534129-33534410	HepG2	liver:	n/a	n/a
18	FOXA1	chr22:33526417-33526761	HepG2	liver:	n/a	chr22:33526647-33526659
19	FOXA2	chr22:33526357-33526776	HepG2	liver:	n/a	chr22:33526647-33526659
20	GATA3	chr22:33526501-33526788	MCF-7	breast:	n/a	n/a
21	HDAC2	chr22:33526358-33526846	HepG2	liver:	n/a	chr22:33526647-33526656
22	HDAC2	chr22:33526381-33526792	HepG2	liver:	n/a	chr22:33526647-33526656
23	HNF4A	chr22:33534288-33534542	HepG2	liver:	n/a	n/a
24	HNF4A	chr22:33526489-33526716	HepG2	liver:	n/a	chr22:33526675-33526690
25	JUND	chr22:33526539-33526738	HepG2	liver:	n/a	n/a
26	MAFF	chr22:33526484-33526813	HepG2	liver:	n/a	n/a
27	MAFK	chr22:33526484-33526807	HepG2	liver:	n/a	n/a
28	MAFK	chr22:33526475-33526806	HepG2	liver:	n/a	n/a
29	MBD4	chr22:33526452-33526739	HepG2	liver:	n/a	n/a
30	MYC	chr22:33528065-33528073	MCF10A-Er-Src	breast:	n/a	n/a
31	NFIC	chr22:33526448-33526745	HepG2	liver:	n/a	n/a
32	NFIC	chr22:33526453-33526726	HepG2	liver:	n/a	n/a
33	NR2F2	chr22:33526336-33526824	MCF-7	breast:	n/a	n/a
34	NR2F2	chr22:33526313-33526857	HepG2	liver:	n/a	n/a
35	NR2F2	chr22:33526359-33526857	HepG2	liver:	n/a	n/a
36	POLR2A	chr22:33531496-33531614	Gliobla	brain:	n/a	n/a
37	POLR2A	chr22:33535925-33536129	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr22:33527611-33527665	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr22:33535868-33536371	H1-hESC	embryonic stem cell:	n/a	n/a
40	RXRA	chr22:33526463-33526797	HepG2	liver:	n/a	n/a
41	SP1	chr22:33526446-33526855	HepG2	liver:	n/a	n/a
42	TCF7L2	chr22:33526501-33526709	MCF-7	breast:	n/a	n/a
43	TEAD4	chr22:33526323-33526888	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33537311..33539438-chr22:33543195..33545411,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233632	TF binding region

Extended variants
information (count: 171 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539339926	chr22:33523825-33523826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561855159	chr22:33523826-33523827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186086575	chr22:33523858-33523859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73881964	chr22:33523863-33523864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544296785	chr22:33523885-33523886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553192402	chr22:33523892-33523893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533084261	chr22:33523900-33523901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546258481	chr22:33523918-33523919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541455274	chr22:33523938-33523939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386820797	chr22:33524045-33524046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11089606	chr22:33524046-33524047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572956849	chr22:33524055-33524056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181213956	chr22:33524079-33524080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79529890	chr22:33524131-33524132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551425969	chr22:33524132-33524133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57048867	chr22:33524147-33524148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373232928	chr22:33524211-33524212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140870515	chr22:33524242-33524243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150147077	chr22:33524254-33524255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564205540	chr22:33524283-33524284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375870652	chr22:33524326-33524327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532780777	chr22:33524354-33524355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546064292	chr22:33524435-33524436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533279510	chr22:33524436-33524437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4552278	chr22:33524443-33524444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7290905	chr22:33524488-33524489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs137328	chr22:33524497-33524498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs137329	chr22:33524554-33524555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186237240	chr22:33524585-33524586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35982890	chr22:33524587-33524588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191090968	chr22:33524612-33524613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540366879	chr22:33524616-33524617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138181885	chr22:33524627-33524628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137330	chr22:33524636-33524637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190494735	chr22:33524653-33524654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549234594	chr22:33524655-33524656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140764137	chr22:33524666-33524667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375172810	chr22:33524667-33524668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201839898	chr22:33524670-33524671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12170629	chr22:33524671-33524672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535608430	chr22:33524673-33524674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531914135	chr22:33524678-33524679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28796653	chr22:33524680-33524681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12170754	chr22:33524684-33524685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377578301	chr22:33524696-33524697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386820798	chr22:33524711-33524712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7291617	chr22:33524715-33524716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5749560	chr22:33524718-33524719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571855948	chr22:33524729-33524730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534024778	chr22:33524745-33524746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	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
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33523400-33524800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:33524800-33525400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:33525800-33527200	Enhancers	HepG2	liver
4	chr22:33526200-33527400	Enhancers	Liver	Liver
5	chr22:33535800-33536000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr22:33535800-33536200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr22:33535800-33536200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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