Variant report

Variant	nsv878724
Chromosome Location	chr4:18985954-19115862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:
2	chr4:18985201..18987077-chr4:18989003..18991039,2	K562	blood:
3	chr4:18985201..18987077-chr4:18989003..18991039,2	K562	blood:
4	chr19:49990781..49991366-chr4:19000460..19000979,2	HCT-116	colon:
5	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142541	chromatin interactions

Extended variants
information (count: 2297 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2297 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531138187	chr4:18988239-18988240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571827160	chr4:18988251-18988252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545367843	chr4:18988270-18988271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140678939	chr4:18988299-18988300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142917085	chr4:18988341-18988342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10020388	chr4:18988347-18988348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186081491	chr4:18988364-18988365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371818393	chr4:18988397-18988398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369811503	chr4:18988398-18988399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561917142	chr4:18988411-18988412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370165801	chr4:18988413-18988414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78694412	chr4:18988431-18988432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559856268	chr4:18988442-18988443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190543717	chr4:18988444-18988445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181410786	chr4:18988470-18988471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144590505	chr4:18988483-18988484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537743837	chr4:18988485-18988486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148464162	chr4:18988556-18988557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1993179	chr4:18988582-18988583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553174556	chr4:18988598-18988599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565417781	chr4:18988687-18988688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75832431	chr4:18988696-18988697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56732178	chr4:18988697-18988698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576003054	chr4:18988864-18988865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543408843	chr4:18988870-18988871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142611529	chr4:18988890-18988891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574006144	chr4:18988898-18988899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541204816	chr4:18988940-18988941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559620261	chr4:18988942-18988943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533454266	chr4:18988998-18988999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185540740	chr4:18996707-18996708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563145662	chr4:18996708-18996709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190251250	chr4:18996727-18996728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563631514	chr4:18996740-18996741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577039182	chr4:18996753-18996754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181496182	chr4:18996838-18996839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs207385	chr4:18996843-18996844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs207384	chr4:18996850-18996851	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528790881	chr4:18996864-18996865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76945716	chr4:18996868-18996869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565515074	chr4:18996878-18996879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532884057	chr4:18996896-18996897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551411250	chr4:18996903-18996904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569665334	chr4:18996964-18996965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141795307	chr4:18997030-18997031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549027363	chr4:18997057-18997058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs36093873	chr4:18997062-18997063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567551715	chr4:18997103-18997104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186617251	chr4:18997183-18997184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375094612	chr4:18997204-18997205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18988200-18989000	Enhancers	Primary B cells from cord blood	blood
2	chr4:18996600-18997000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:18996800-18997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:18997000-18998600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:18998600-18999200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:18998600-18999200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:18999200-19002000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:19002000-19002200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:19002200-19004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:19003800-19004200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:19003800-19005200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:19004200-19006800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:19005200-19006600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:19005200-19012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:19006400-19007200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:19006400-19007200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:19006400-19007200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:19006400-19007200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:19006400-19007200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:19006400-19007400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:19006600-19007200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:19006600-19007200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:19006600-19007200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:19006600-19007200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:19006600-19007200	Enhancers	Fetal Lung	lung
26	chr4:19006600-19007200	Enhancers	Fetal Stomach	stomach
27	chr4:19006600-19007200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:19006600-19007200	Enhancers	NH-A	brain
29	chr4:19006800-19007200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:19006800-19007200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:19006800-19007200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:19006800-19007400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:19007200-19011000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:19007200-19011400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:19007200-19012000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:19007200-19012200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:19007200-19012200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:19007200-19012200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:19007200-19012400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:19007200-19012400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:19007400-19011600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:19007400-19012200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:19011000-19011200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:19011200-19011600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:19011400-19011600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:19011400-19011800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:19011400-19011800	Enhancers	Placenta	Placenta
48	chr4:19011600-19012400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:19011600-19013000	Enhancers	Fetal Heart	heart
50	chr4:19011600-19013000	Enhancers	Placenta Amnion	Placenta Amnion

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