Variant report

Variant	esv18848
Chromosome Location	chr4:8731849-8732689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8732091..8733640-chr4:8882099..8884528,2	MCF-7	breast:
2	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73090167	chr4:8731855-8731856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564863074	chr4:8731858-8731859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563994197	chr4:8731859-8731860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377189123	chr4:8731861-8731862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60805252	chr4:8731884-8731885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547371545	chr4:8731886-8731887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568244340	chr4:8731887-8731888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529106880	chr4:8731908-8731909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550613304	chr4:8731914-8731915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183967430	chr4:8731918-8731919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559351357	chr4:8732004-8732005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112721530	chr4:8732007-8732008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568991983	chr4:8732011-8732012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539391654	chr4:8732012-8732013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75526564	chr4:8732020-8732021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13120358	chr4:8732053-8732054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187850485	chr4:8732070-8732071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555813283	chr4:8732076-8732077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61305326	chr4:8732079-8732080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs60372178	chr4:8732080-8732081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556592862	chr4:8732110-8732111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577719437	chr4:8732142-8732143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544961712	chr4:8732149-8732150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111701365	chr4:8732198-8732199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199798712	chr4:8732204-8732205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57885403	chr4:8732208-8732209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192542871	chr4:8732214-8732215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540502004	chr4:8732220-8732221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75366842	chr4:8732246-8732247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529053840	chr4:8732250-8732251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550502340	chr4:8732271-8732272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562525811	chr4:8732330-8732331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533048140	chr4:8732343-8732344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144351107	chr4:8732346-8732347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184977046	chr4:8732352-8732353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78469825	chr4:8732371-8732372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549617841	chr4:8732408-8732409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78699310	chr4:8732423-8732424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61199074	chr4:8732449-8732450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140890235	chr4:8732452-8732453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577858598	chr4:8732475-8732476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534499079	chr4:8732483-8732484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538745935	chr4:8732503-8732504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553878201	chr4:8732504-8732505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572095981	chr4:8732523-8732524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114096553	chr4:8732531-8732532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146567597	chr4:8732558-8732559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561967309	chr4:8732572-8732573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144321967	chr4:8732618-8732619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544533864	chr4:8732642-8732643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8728200-8732400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr4:8730400-8734000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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