Variant report

Variant	nsv508276
Chromosome Location	chr4:19054984-19118533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:
2	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:

Extended variants
information (count: 486 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533665362	chr4:19055033-19055034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs552260600	chr4:19055133-19055134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548910708	chr4:19055145-19055146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189800814	chr4:19055153-19055154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs556186269	chr4:19055189-19055190	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs207336	chr4:19055271-19055272	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs28715144	chr4:19055272-19055273	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553707969	chr4:19055294-19055295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572172520	chr4:19055332-19055333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs368578275	chr4:19055333-19055334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs578092365	chr4:19055352-19055353	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs74420163	chr4:19055363-19055364	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs67472866	chr4:19055374-19055375	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144759970	chr4:19055381-19055382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543442460	chr4:19055387-19055388	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs574252272	chr4:19055437-19055438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs73101650	chr4:19055446-19055447	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182310840	chr4:19055451-19055452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs548033885	chr4:19055464-19055465	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs559705370	chr4:19055476-19055477	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs574977448	chr4:19055488-19055489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374962969	chr4:19055501-19055502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187564906	chr4:19055509-19055510	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs148536263	chr4:19055525-19055526	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570601655	chr4:19055534-19055535	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537924880	chr4:19055568-19055569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs193298661	chr4:19055603-19055604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568023763	chr4:19055669-19055670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146553340	chr4:19055671-19055672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141195278	chr4:19055675-19055676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565830968	chr4:19055741-19055742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539286835	chr4:19055809-19055810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185373110	chr4:19055817-19055818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369085258	chr4:19055821-19055822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576154058	chr4:19055889-19055890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543483197	chr4:19055890-19055891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555492701	chr4:19055911-19055912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372826503	chr4:19056054-19056055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527318269	chr4:19056071-19056072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573937610	chr4:19056094-19056095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541362577	chr4:19056126-19056127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533575775	chr4:19056135-19056136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377395530	chr4:19056161-19056162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188688647	chr4:19056172-19056173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79095299	chr4:19056265-19056266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs369477646	chr4:19056268-19056269	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs192008558	chr4:19056280-19056281	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543927867	chr4:19056308-19056309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs73234194	chr4:19056340-19056341	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs549869708	chr4:19056341-19056342	Weak transcription Enhancers Flanking Active TSS	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19049600-19056200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:19054000-19056200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:19054000-19056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:19054200-19056400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:19054200-19056600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:19054600-19055600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:19055600-19056000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:19056000-19056200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:19056200-19057200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:19056200-19057200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:19056200-19057800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:19056400-19057200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:19056400-19057400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:19056600-19056800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:19057200-19057600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:19057600-19058000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:19058000-19058600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:19072400-19072800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:19072800-19073200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:19073200-19073600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:19075400-19076200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:19075600-19076000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:19075600-19076200	Enhancers	Fetal Kidney	kidney
24	chr4:19075800-19076200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:19076000-19077600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:19077600-19078200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:19079400-19079600	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr4:19079400-19079600	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr4:19079400-19079600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr4:19079400-19079600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr4:19079400-19079600	Active TSS	HUVEC	blood vessel
32	chr4:19079400-19079600	Flanking Bivalent TSS/Enh	K562	blood
33	chr4:19079400-19079600	Enhancers	Osteobl	bone
34	chr4:19097000-19097600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr4:19097000-19097800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:19097000-19098000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:19097000-19098000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:19097200-19097600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:19097200-19097800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr4:19097200-19097800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:19097200-19097800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:19097200-19098000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:19097200-19098400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:19097600-19098000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:19097800-19099400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:19098000-19099200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:19099400-19099600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:19099400-19100200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:19111800-19112000	Enhancers	Fetal Kidney	kidney
50	chr4:19112000-19113600	Weak transcription	Fetal Kidney	kidney

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