Variant report

Variant	nsv4260
Chromosome Location	chr4:19066766-19120986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:19118666..19120200-chr4:19121807..19124671,2	K562	blood:
2	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:
3	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:

Extended variants
information (count: 347 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115376216	chr4:19072403-19072404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547788330	chr4:19072410-19072411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541520021	chr4:19072435-19072436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111896622	chr4:19072469-19072470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369999152	chr4:19072477-19072478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373751556	chr4:19072535-19072536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188951953	chr4:19072604-19072605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527992343	chr4:19072610-19072611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372820193	chr4:19072611-19072612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368528030	chr4:19072620-19072621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527343919	chr4:19072799-19072800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116329535	chr4:19072834-19072835	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192455068	chr4:19072865-19072866	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531467277	chr4:19072907-19072908	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549587359	chr4:19072909-19072910	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556714845	chr4:19072944-19072945	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs117268163	chr4:19072955-19072956	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183159480	chr4:19073033-19073034	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs187491090	chr4:19073040-19073041	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114034041	chr4:19073052-19073053	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539538915	chr4:19073066-19073067	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs191941576	chr4:19073122-19073123	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184717407	chr4:19073133-19073134	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs189234021	chr4:19073173-19073174	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574325712	chr4:19073188-19073189	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs138613224	chr4:19073194-19073195	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs542215969	chr4:19073197-19073198	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs372613090	chr4:19073248-19073249	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141746835	chr4:19073249-19073250	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs146230338	chr4:19073271-19073272	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs555812250	chr4:19073366-19073367	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs114672715	chr4:19073368-19073369	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369782958	chr4:19073417-19073418	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs192610719	chr4:19073434-19073435	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs531501931	chr4:19073443-19073444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs73801199	chr4:19073449-19073450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs561637803	chr4:19073495-19073496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139207049	chr4:19073529-19073530	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs555822627	chr4:19075401-19075402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192495255	chr4:19075402-19075403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540636006	chr4:19075564-19075565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565087889	chr4:19075618-19075619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184561481	chr4:19075640-19075641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544545147	chr4:19075641-19075642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189010090	chr4:19075697-19075698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530261145	chr4:19075736-19075737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548481777	chr4:19075786-19075787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386672268	chr4:19075799-19075800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78086478	chr4:19075821-19075822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs137991945	chr4:19075869-19075870	Enhancers	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19072400-19072800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:19072800-19073200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:19073200-19073600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:19075400-19076200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:19075600-19076000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:19075600-19076200	Enhancers	Fetal Kidney	kidney
7	chr4:19075800-19076200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:19076000-19077600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:19077600-19078200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:19079400-19079600	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr4:19079400-19079600	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr4:19079400-19079600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr4:19079400-19079600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr4:19079400-19079600	Active TSS	HUVEC	blood vessel
15	chr4:19079400-19079600	Flanking Bivalent TSS/Enh	K562	blood
16	chr4:19079400-19079600	Enhancers	Osteobl	bone
17	chr4:19097000-19097600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:19097000-19097800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:19097000-19098000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:19097000-19098000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:19097200-19097600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:19097200-19097800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:19097200-19097800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:19097200-19097800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:19097200-19098000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:19097200-19098400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:19097600-19098000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:19097800-19099400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:19098000-19099200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:19099400-19099600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:19099400-19100200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:19111800-19112000	Enhancers	Fetal Kidney	kidney
33	chr4:19112000-19113600	Weak transcription	Fetal Kidney	kidney

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