Variant report

Variant	nsv432583
Chromosome Location	chr4:18944656-18971291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
2	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
3	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
4	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
5	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
6	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:

Extended variants
information (count: 649 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564091579	chr4:18945850-18945851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs207279	chr4:18945854-18945855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562044808	chr4:18945881-18945882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140810254	chr4:18945902-18945903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535445518	chr4:18945943-18945944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530613821	chr4:18945994-18945995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550400902	chr4:18946173-18946174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192778278	chr4:18946217-18946218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558443360	chr4:18946231-18946232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576547307	chr4:18946240-18946241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570321991	chr4:18946273-18946274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537681928	chr4:18946315-18946316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149698068	chr4:18946341-18946342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183955111	chr4:18946552-18946553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146687752	chr4:18946576-18946577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188338644	chr4:18946578-18946579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180686345	chr4:18946643-18946644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533205245	chr4:18946672-18946673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28625252	chr4:18946673-18946674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184744139	chr4:18946682-18946683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536908828	chr4:18946687-18946688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531399742	chr4:18946739-18946740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369352388	chr4:18946838-18946839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59012907	chr4:18946854-18946855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57889001	chr4:18946855-18946856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140251656	chr4:18946859-18946860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529301272	chr4:18946874-18946875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190244617	chr4:18946897-18946898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182064125	chr4:18946903-18946904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533399636	chr4:18946910-18946911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567015020	chr4:18946972-18946973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548602106	chr4:18946987-18946988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145241398	chr4:18947014-18947015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537633084	chr4:18947087-18947088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186883213	chr4:18947095-18947096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567865377	chr4:18947096-18947097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs137859569	chr4:18947099-18947100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191772987	chr4:18947168-18947169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571923736	chr4:18947202-18947203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535875307	chr4:18947296-18947297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549410845	chr4:18947307-18947308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181393130	chr4:18947326-18947327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs207278	chr4:18947331-18947332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576246797	chr4:18947338-18947339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36092131	chr4:18947377-18947378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558758351	chr4:18947419-18947420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10024193	chr4:18947507-18947508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534815779	chr4:18947515-18947516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529068828	chr4:18947525-18947526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185679254	chr4:18947559-18947560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18945800-18946800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:18946800-18949200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:18949200-18949600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:18949600-18951600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:18950800-18951200	Enhancers	Fetal Lung	lung
6	chr4:18955600-18955800	Enhancers	Fetal Kidney	kidney
7	chr4:18955800-18959200	Weak transcription	Fetal Kidney	kidney
8	chr4:18958800-18959600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr4:18959200-18959400	Enhancers	Fetal Kidney	kidney
10	chr4:18959400-18959800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:18959400-18959800	Weak transcription	Fetal Kidney	kidney
12	chr4:18959400-18960600	Enhancers	Fetal Lung	lung
13	chr4:18959800-18960200	Enhancers	Fetal Kidney	kidney
14	chr4:18960000-18960400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:18962800-18963800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:18962800-18964400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:18963000-18963200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:18963000-18963800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:18963000-18964400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:18963000-18964400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:18963200-18963800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:18963200-18964400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:18963600-18964400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:18964400-18966600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:18964400-18966800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:18966600-18967000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr4:18966800-18967000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:18967000-18972400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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