Variant report

Variant	nsv10543
Chromosome Location	chr4:104191189-104249208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:104243719..104245643-chr4:104247001..104248713,2	K562	blood:
2	chr4:104243719..104245643-chr4:104247001..104248713,2	K562	blood:
3	chr4:104213569..104215673-chr4:104223134..104225892,2	MCF-7	breast:
4	chr4:104246786..104248754-chr4:104256476..104258038,2	K562	blood:
5	chr4:104213569..104215673-chr4:104223134..104225892,2	MCF-7	breast:
6	chr4:104181685..104183408-chr4:104209717..104212156,2	K562	blood:

Extended variants
information (count: 1787 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1787 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192574137	chr4:104191200-104191201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577080198	chr4:104191222-104191223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76707533	chr4:104191289-104191290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559541773	chr4:104191326-104191327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577859487	chr4:104191348-104191349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150112760	chr4:104191351-104191352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563308882	chr4:104191374-104191375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182739544	chr4:104191390-104191391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189051918	chr4:104191415-104191416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541292376	chr4:104191420-104191421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199748212	chr4:104191423-104191424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78800300	chr4:104191426-104191427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193130249	chr4:104191430-104191431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547590129	chr4:104191445-104191446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1116825	chr4:104191534-104191535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs539577177	chr4:104191537-104191538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551436501	chr4:104191552-104191553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7684186	chr4:104191591-104191592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111579340	chr4:104191618-104191619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371859532	chr4:104191643-104191644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534622237	chr4:104191689-104191690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550114298	chr4:104191703-104191704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571774920	chr4:104191716-104191717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534611578	chr4:104191765-104191766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555692112	chr4:104191773-104191774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573854168	chr4:104191785-104191786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141107853	chr4:104191796-104191797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184479814	chr4:104191807-104191808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577898402	chr4:104191838-104191839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545153064	chr4:104191839-104191840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539919277	chr4:104191878-104191879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557936294	chr4:104191921-104191922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532713887	chr4:104191932-104191933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188940189	chr4:104191933-104191934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7689737	chr4:104191937-104191938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529608595	chr4:104191940-104191941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547667131	chr4:104191974-104191975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6847360	chr4:104192050-104192051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573756905	chr4:104192075-104192076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533369321	chr4:104192094-104192095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139370828	chr4:104192125-104192126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536244217	chr4:104192133-104192134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149421841	chr4:104192135-104192136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144791658	chr4:104192177-104192178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148127736	chr4:104192178-104192179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534950771	chr4:104192195-104192196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192250250	chr4:104192246-104192247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577978952	chr4:104192267-104192268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538853827	chr4:104192271-104192272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115133756	chr4:104192276-104192277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104189600-104193800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:104192600-104192800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:104192600-104193000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:104192800-104193000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:104192800-104200800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:104193000-104193400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:104193000-104194400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:104193000-104194400	Enhancers	HMEC	breast
9	chr4:104193000-104194600	Enhancers	Gastric	stomach
10	chr4:104193400-104193800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr4:104193400-104194200	Enhancers	Pancreas	Pancrea
12	chr4:104193800-104194200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr4:104194200-104194600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr4:104194400-104194600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
15	chr4:104194600-104202600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:104197800-104198200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:104197800-104198200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:104198000-104198200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:104209400-104229400	Weak transcription	Right Atrium	heart
20	chr4:104210200-104210600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:104213400-104214400	Enhancers	HMEC	breast
22	chr4:104213600-104213800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:104214200-104214600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:104214600-104214800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:104214800-104223800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:104215000-104216800	Enhancers	HepG2	liver
27	chr4:104215400-104216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:104215800-104216800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:104216000-104220200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:104220200-104220400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:104220400-104224000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:104223800-104224800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:104223800-104224800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:104223800-104224800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:104223800-104225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:104224000-104224400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:104224000-104224600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:104224000-104224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:104224000-104224800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:104224000-104224800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr4:104224000-104224800	Enhancers	HMEC	breast
42	chr4:104224000-104225000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr4:104224200-104224400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr4:104224200-104224400	Enhancers	HepG2	liver
45	chr4:104224200-104224800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:104224400-104226600	Weak transcription	HepG2	liver
47	chr4:104224400-104227800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:104224600-104227200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:104224600-104227600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:104224800-104226400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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