Variant report

Variant	nsv1002664
Chromosome Location	chr4:94045490-94107687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:94078497..94079606-chr4:94120498..94121581,4	MCF-7	breast:
2	chr4:94103224..94106173-chr4:94109926..94112248,2	MCF-7	breast:
3	chr4:94040244..94043067-chr4:94045485..94048074,2	K562	blood:
4	chr4:94078923..94080034-chr4:94120388..94121356,11	MCF-7	breast:

Extended variants
information (count: 2054 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2054 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568531510	chr4:94052014-94052015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537473773	chr4:94052051-94052052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201822465	chr4:94052076-94052077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192848070	chr4:94052109-94052110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17264265	chr4:94052135-94052136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551140509	chr4:94052178-94052179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185351507	chr4:94052198-94052199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74341786	chr4:94052201-94052202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2455774	chr4:94052210-94052211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571918989	chr4:94052217-94052218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534478355	chr4:94052221-94052222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554269656	chr4:94052228-94052229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530602543	chr4:94052246-94052247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574175116	chr4:94052259-94052260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34215461	chr4:94052297-94052298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543657313	chr4:94052318-94052319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543437345	chr4:94052336-94052337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140709333	chr4:94052338-94052339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577510603	chr4:94052353-94052354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143043763	chr4:94052358-94052359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560046794	chr4:94052370-94052371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377630601	chr4:94052435-94052436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528712191	chr4:94052438-94052439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111402878	chr4:94052453-94052454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28448801	chr4:94052456-94052457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13107832	chr4:94052457-94052458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs199989883	chr4:94052588-94052589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551001591	chr4:94052594-94052595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142601942	chr4:94052596-94052597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568325232	chr4:94052668-94052669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1503216	chr4:94052674-94052675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552072030	chr4:94052682-94052683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565613253	chr4:94052691-94052692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11097357	chr4:94052756-94052757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201212020	chr4:94052758-94052759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189381675	chr4:94052770-94052771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1503215	chr4:94052772-94052773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568185995	chr4:94052791-94052792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1160685	chr4:94052854-94052855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556967071	chr4:94052863-94052864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193002854	chr4:94052944-94052945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545748979	chr4:94052972-94052973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72887660	chr4:94052976-94052977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183747724	chr4:94053033-94053034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188415771	chr4:94053035-94053036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542475146	chr4:94053058-94053059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1160686	chr4:94053099-94053100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs552753497	chr4:94053152-94053153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372710871	chr4:94053249-94053250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531088726	chr4:94053260-94053261	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	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
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94052000-94052200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:94052000-94055400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:94052200-94052800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:94052800-94053400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:94052800-94053400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:94052800-94054000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:94052800-94057600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:94053000-94053400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:94053000-94053600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:94053200-94055200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:94053400-94053800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr4:94053400-94054200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:94053400-94054200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr4:94053400-94054400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:94053600-94054800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:94053800-94056000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:94054200-94057400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:94054200-94057600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:94054400-94054800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:94054800-94055200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:94054800-94055400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:94054800-94056200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr4:94055200-94059200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:94055200-94059800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:94055400-94059600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:94055400-94064400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:94056000-94056400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:94056200-94056400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:94056400-94056600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:94056600-94059800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:94057400-94059800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:94057600-94059600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:94057600-94064000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:94059200-94060600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:94059600-94060200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:94059600-94060600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:94059800-94060200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:94059800-94060600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:94059800-94060600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:94059800-94060800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:94059800-94060800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:94060200-94060600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:94060200-94060600	Enhancers	Brain Substantia Nigra	brain
44	chr4:94060200-94065200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:94060200-94065400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:94060600-94064000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:94060600-94064400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:94060600-94065200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:94060800-94064000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:94060800-94068600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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