Variant report

Variant	nsv869833
Chromosome Location	chr4:21333136-21362264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547985241	chr4:21353808-21353809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs566390313	chr4:21353834-21353835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs533850880	chr4:21353874-21353875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs11935013	chr4:21353911-21353912	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571583351	chr4:21353916-21353917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs193038319	chr4:21353918-21353919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs557216757	chr4:21353920-21353921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs575907386	chr4:21353925-21353926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185244872	chr4:21353939-21353940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs189037828	chr4:21353945-21353946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573546422	chr4:21353948-21353949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575399781	chr4:21353949-21353950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs138053598	chr4:21353957-21353958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs181834980	chr4:21353964-21353965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532050314	chr4:21354001-21354002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149531318	chr4:21354002-21354003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs114371758	chr4:21354056-21354057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113061496	chr4:21354076-21354077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184854105	chr4:21354104-21354105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188149331	chr4:21354105-21354106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547948821	chr4:21354106-21354107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs534376542	chr4:21354132-21354133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs180880658	chr4:21354151-21354152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs186344132	chr4:21354152-21354153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs552226247	chr4:21354196-21354197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559866163	chr4:21360601-21360602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190194583	chr4:21360665-21360666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558002021	chr4:21360669-21360670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576265857	chr4:21360683-21360684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71189692	chr4:21360714-21360715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs398092226	chr4:21360718-21360719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141374606	chr4:21360822-21360823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555746641	chr4:21360935-21360936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182632279	chr4:21360971-21360972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371097647	chr4:21360972-21360973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188319880	chr4:21361022-21361023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375398900	chr4:21361073-21361074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560264921	chr4:21361101-21361102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547606954	chr4:21361116-21361117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572524137	chr4:21361117-21361118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567514922	chr4:21361126-21361127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545856941	chr4:21361145-21361146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193195804	chr4:21361175-21361176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531742778	chr4:21361187-21361188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549956279	chr4:21361195-21361196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562442396	chr4:21361196-21361197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529541986	chr4:21361230-21361231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547393850	chr4:21361261-21361262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565507299	chr4:21361264-21361265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183645526	chr4:21361273-21361274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21353800-21354200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:21360600-21360800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:21360800-21362000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:21361600-21364200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:21362000-21362800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:21362000-21363400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:21362000-21364000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:21362200-21362400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:21362200-21362600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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