Variant report

Variant	nsv513150
Chromosome Location	chr4:93358791-93361562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs540819474	chr4:93358865-93358866	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149641706	chr4:93358957-93358958	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372052860	chr4:93358963-93358964	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144376559	chr4:93358970-93358971	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528116959	chr4:93358980-93358981	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546972637	chr4:93358982-93358983	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375281549	chr4:93359002-93359003	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530205840	chr4:93359012-93359013	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548471873	chr4:93359052-93359053	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148775360	chr4:93359117-93359118	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140495298	chr4:93359127-93359128	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185534921	chr4:93359153-93359154	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542389188	chr4:93359168-93359169	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563651662	chr4:93359170-93359171	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62312196	chr4:93359200-93359201	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143784875	chr4:93359256-93359257	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146708460	chr4:93359260-93359261	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13434458	chr4:93359279-93359280	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566853965	chr4:93359325-93359326	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552555571	chr4:93359338-93359339	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529443068	chr4:93359339-93359340	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371498969	chr4:93359351-93359352	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535878277	chr4:93359432-93359433	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558269101	chr4:93359435-93359436	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7689616	chr4:93359453-93359454	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190342576	chr4:93359460-93359461	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139186934	chr4:93359504-93359505	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576825556	chr4:93359536-93359537	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150754215	chr4:93359545-93359546	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144019417	chr4:93359561-93359562	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150931685	chr4:93359664-93359665	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs572484559	chr4:93359673-93359674	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs182687480	chr4:93359677-93359678	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs369741136	chr4:93359695-93359696	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs34304139	chr4:93359729-93359730	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs367873186	chr4:93359730-93359731	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs562010600	chr4:93359764-93359765	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs140675801	chr4:93359796-93359797	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs544358628	chr4:93359811-93359812	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373471185	chr4:93359812-93359813	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80356235	chr4:93359846-93359847	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187553866	chr4:93359876-93359877	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547047930	chr4:93359880-93359881	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566884958	chr4:93359885-93359886	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529268563	chr4:93359888-93359889	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549418236	chr4:93359899-93359900	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199735848	chr4:93359923-93359924	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568318606	chr4:93359949-93359950	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554274225	chr4:93360001-93360002	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115604712	chr4:93360006-93360007	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93344000-93364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:93354800-93359800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:93354800-93361600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:93357800-93359400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:93358000-93360200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:93358200-93359400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:93358200-93360200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:93358400-93358800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:93358400-93358800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:93358400-93358800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:93358400-93358800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:93358400-93358800	Enhancers	Aorta	Aorta
13	chr4:93358400-93359200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:93358400-93360200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:93358600-93358800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr4:93358800-93359400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:93358800-93359800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:93358800-93361800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:93358800-93361800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:93358800-93362400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:93359200-93359400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr4:93359400-93359600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:93359400-93359600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:93359400-93359800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:93359400-93360200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:93359600-93359800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:93359600-93359800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:93359800-93360200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr4:93359800-93360200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:93359800-93360200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr4:93359800-93360200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr4:93359800-93360200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr4:93360200-93360400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:93360200-93360600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr4:93360200-93361600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:93360200-93361800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:93360200-93361800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:93360200-93362400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:93360200-93362400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:93360200-93366600	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr4:93360200-93367400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr4:93360400-93360800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr4:93360600-93361800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:93360800-93361800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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