Variant report

Variant	nsv966258
Chromosome Location	chr4:30886100-30889434
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	KAP1	chr4:30885891-30886858	U2OS	brain:	n/a	n/a
2	KAP1	chr4:30885761-30886526	HEK293	kidney:	n/a	n/a
3	POLR2A	chr4:30889421-30889611	K562	blood:	n/a	n/a
4	SETDB1	chr4:30887039-30887326	U2OS	brain:	n/a	n/a
5	TCF7L2	chr4:30885823-30886449	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
ENSG00000250624	TF binding region

Extended variants
information (count: 110 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182416497	chr4:30886130-30886131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141898531	chr4:30886169-30886170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146178513	chr4:30886197-30886198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531963829	chr4:30886224-30886225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185949611	chr4:30886247-30886248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191200607	chr4:30886248-30886249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374773314	chr4:30886258-30886259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181231555	chr4:30886280-30886281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75081340	chr4:30886282-30886283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112136408	chr4:30886292-30886293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71598130	chr4:30886315-30886316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558385903	chr4:30886366-30886367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577188613	chr4:30886426-30886427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13144492	chr4:30886443-30886444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541030006	chr4:30886457-30886458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368949360	chr4:30886465-30886466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553312957	chr4:30886475-30886476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540478084	chr4:30886480-30886481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185812703	chr4:30886516-30886517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73214925	chr4:30886537-30886538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563912830	chr4:30886566-30886567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531085335	chr4:30886568-30886569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573677187	chr4:30886610-30886611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546521520	chr4:30886644-30886645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564736341	chr4:30886653-30886654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528767148	chr4:30886658-30886659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139053875	chr4:30886702-30886703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542586995	chr4:30886733-30886734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529795373	chr4:30886768-30886769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149883529	chr4:30886786-30886787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569520651	chr4:30886826-30886827	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs536823980	chr4:30886844-30886845	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs558442509	chr4:30886852-30886853	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs562379251	chr4:30886869-30886870	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375847208	chr4:30886871-30886872	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553136161	chr4:30886876-30886877	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs9884332	chr4:30886890-30886891	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374174030	chr4:30886953-30886954	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542352276	chr4:30886991-30886992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs117723124	chr4:30886995-30886996	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs575930691	chr4:30887049-30887050	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143923881	chr4:30887060-30887061	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs564648876	chr4:30887112-30887113	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs148639709	chr4:30887117-30887118	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs551749309	chr4:30887133-30887134	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs540914914	chr4:30887137-30887138	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs147776535	chr4:30887141-30887142	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs6856866	chr4:30887146-30887147	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529647373	chr4:30887148-30887149	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182916586	chr4:30887196-30887197	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30868800-30886800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:30870800-30903200	Weak transcription	Fetal Lung	lung
3	chr4:30879800-30893000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:30881800-30886400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:30883200-30899000	Weak transcription	Aorta	Aorta
6	chr4:30885000-30886200	Weak transcription	Fetal Heart	heart
7	chr4:30886200-30886600	Enhancers	Fetal Heart	heart
8	chr4:30886600-30889600	Weak transcription	Fetal Heart	heart
9	chr4:30886800-30887200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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