Variant report

Variant	esv995513
Chromosome Location	chr4:160493535-160503286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 404 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185119531	chr4:160493605-160493606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576769233	chr4:160493621-160493622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189325487	chr4:160493622-160493623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192472656	chr4:160493700-160493701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146360711	chr4:160493703-160493704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572860246	chr4:160493721-160493722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541996025	chr4:160493758-160493759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561975884	chr4:160493909-160493910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527942549	chr4:160493935-160493936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547796860	chr4:160493986-160493987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574075375	chr4:160494037-160494038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17038430	chr4:160494103-160494104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148639768	chr4:160494105-160494106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550188864	chr4:160494160-160494161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141178401	chr4:160494187-160494188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183756447	chr4:160494210-160494211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554770334	chr4:160494241-160494242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568284122	chr4:160494246-160494247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188085538	chr4:160494252-160494253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112161782	chr4:160494304-160494305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9994960	chr4:160494305-160494306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545480433	chr4:160494321-160494322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555766651	chr4:160494344-160494345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114873023	chr4:160494393-160494394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541537883	chr4:160494410-160494411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561917989	chr4:160494504-160494505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527882402	chr4:160494529-160494530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150724487	chr4:160494532-160494533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138999790	chr4:160494538-160494539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533708540	chr4:160494551-160494552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549893129	chr4:160494559-160494560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17038431	chr4:160494561-160494562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529379060	chr4:160494628-160494629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575894270	chr4:160494655-160494656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180743981	chr4:160494666-160494667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17038432	chr4:160494733-160494734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533740839	chr4:160494798-160494799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547619543	chr4:160494807-160494808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs998888	chr4:160494830-160494831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs145010579	chr4:160494850-160494851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147649142	chr4:160494851-160494852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575652047	chr4:160494872-160494873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535130532	chr4:160494940-160494941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186408101	chr4:160494944-160494945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572145519	chr4:160494978-160494979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs998887	chr4:160494997-160494998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372774272	chr4:160495037-160495038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564736873	chr4:160495040-160495041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs998886	chr4:160495054-160495055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs17038435	chr4:160495104-160495105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19805367	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160479600-160506800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:160496000-160496400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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