Variant report

Variant	nsv878725
Chromosome Location	chr4:19036305-19099432
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: 816 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs207343	chr4:19036305-19036306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537144301	chr4:19036308-19036309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376832584	chr4:19036316-19036317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548742724	chr4:19036329-19036330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551902190	chr4:19036342-19036343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570351738	chr4:19036359-19036360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534628800	chr4:19036407-19036408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181207933	chr4:19036408-19036409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148447535	chr4:19036453-19036454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538400224	chr4:19036458-19036459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557117090	chr4:19036488-19036489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144058276	chr4:19036495-19036496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369717481	chr4:19036498-19036499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184519853	chr4:19036505-19036506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573248859	chr4:19036507-19036508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189451582	chr4:19036510-19036511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145963898	chr4:19036528-19036529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16898010	chr4:19036546-19036547	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs550936866	chr4:19036593-19036594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139832877	chr4:19036601-19036602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13434706	chr4:19036646-19036647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143161023	chr4:19036677-19036678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35673318	chr4:19036693-19036694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566943824	chr4:19036723-19036724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570192342	chr4:19036767-19036768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76421740	chr4:19036806-19036807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370346415	chr4:19036852-19036853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115832835	chr4:19036857-19036858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538536805	chr4:19036967-19036968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182149962	chr4:19037024-19037025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79673073	chr4:19037036-19037037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141102188	chr4:19037058-19037059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377396251	chr4:19037097-19037098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536371457	chr4:19037128-19037129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79997432	chr4:19037172-19037173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573285904	chr4:19037176-19037177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13434733	chr4:19037333-19037334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565272906	chr4:19037340-19037341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187231580	chr4:19037357-19037358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544872450	chr4:19037383-19037384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35003987	chr4:19037390-19037391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371837335	chr4:19037417-19037418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562966638	chr4:19037506-19037507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556025083	chr4:19037565-19037566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530285954	chr4:19037566-19037567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548820427	chr4:19037584-19037585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560608079	chr4:19037640-19037641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528169739	chr4:19037648-19037649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546230778	chr4:19037650-19037651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374383230	chr4:19037739-19037740	Weak transcription Enhancers	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19032000-19037600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:19035600-19036400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:19035800-19036400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:19036000-19036800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:19036200-19036800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:19036400-19036800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:19036400-19039800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:19036800-19038000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:19037600-19037800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:19037600-19038000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:19037800-19038000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:19038000-19038200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:19038000-19039600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:19039600-19040200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:19039800-19040200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:19039800-19040200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:19040200-19041000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:19041000-19041600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr4:19043000-19043200	ZNF genes & repeats	Pancreas	Pancrea
20	chr4:19048800-19049200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:19048800-19049600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:19049200-19052800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:19049600-19056200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:19052600-19054000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:19052600-19054000	Enhancers	Fetal Kidney	kidney
26	chr4:19052800-19054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:19052800-19054200	Enhancers	Fetal Lung	lung
28	chr4:19053000-19054000	Enhancers	Colon Smooth Muscle	Colon
29	chr4:19053000-19054200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:19053200-19053800	Enhancers	Fetal Stomach	stomach
31	chr4:19053400-19053800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:19053400-19053800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:19053400-19054000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:19053400-19054000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:19053400-19054000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:19053600-19054000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:19053600-19054000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:19053600-19054000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:19053600-19054000	Enhancers	Brain Germinal Matrix	brain
40	chr4:19053600-19054200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:19053800-19054200	Enhancers	Fetal Brain Male	brain
42	chr4:19054000-19054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:19054000-19056200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:19054000-19056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:19054200-19056400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:19054200-19056600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:19054600-19055600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:19055600-19056000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:19056000-19056200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:19056200-19057200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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