Variant report

Variant	nsv879958
Chromosome Location	chr4:131589420-131649821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:131484502..131485054-chr4:131625879..131626789,3	MCF-7	breast:
2	chr4:131585119..131587841-chr4:131589594..131591630,2	MCF-7	breast:
3	chr12:97890108..97893105-chr4:131617432..131619842,2	MCF-7	breast:
4	chr4:131523291..131525354-chr4:131632545..131634300,2	K562	blood:

Extended variants
information (count: 1590 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1590 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574645640	chr4:131590437-131590438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs971159	chr4:131590484-131590485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs139584443	chr4:131590487-131590488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs971160	chr4:131590493-131590494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573276588	chr4:131590510-131590511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551287705	chr4:131590576-131590577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542518386	chr4:131590607-131590608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192347199	chr4:131590660-131590661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536800808	chr4:131590665-131590666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575270865	chr4:131590676-131590677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555116199	chr4:131590685-131590686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376878558	chr4:131590689-131590690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573227601	chr4:131590699-131590700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374577072	chr4:131590741-131590742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569452960	chr4:131590776-131590777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534274171	chr4:131590818-131590819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558712940	chr4:131590829-131590830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577158493	chr4:131590833-131590834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181979785	chr4:131590856-131590857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185088558	chr4:131590919-131590920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370209331	chr4:131590926-131590927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562398740	chr4:131590945-131590946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73851248	chr4:131590946-131590947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531235975	chr4:131590995-131590996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541592620	chr4:131590998-131590999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140026053	chr4:131591028-131591029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149850420	chr4:131591029-131591030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527424303	chr4:131591036-131591037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147778326	chr4:131591069-131591070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189555285	chr4:131591093-131591094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531334767	chr4:131591160-131591161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28446952	chr4:131591172-131591173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569536790	chr4:131591174-131591175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182673816	chr4:131591175-131591176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367989679	chr4:131591181-131591182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548825766	chr4:131591194-131591195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370561977	chr4:131591214-131591215	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567035827	chr4:131591239-131591240	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534072103	chr4:131591243-131591244	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187005494	chr4:131591254-131591255	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570762595	chr4:131591255-131591256	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371778880	chr4:131591273-131591274	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139419543	chr4:131591297-131591298	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79298614	chr4:131591299-131591300	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191729857	chr4:131591310-131591311	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183736001	chr4:131591338-131591339	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545215355	chr4:131591370-131591371	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145156246	chr4:131591396-131591397	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540472972	chr4:131591487-131591488	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545628668	chr4:131591503-131591504	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131590400-131591200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:131591000-131591200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:131591000-131591200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:131591200-131591800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:131591200-131592600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:131591200-131594600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:131591800-131593800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:131592400-131593000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:131592400-131593600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:131592400-131593600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:131592600-131592800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:131592800-131593800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:131593000-131593400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:131593400-131597800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:131593800-131595000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:131594200-131595000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:131594400-131594600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:131594600-131594800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:131594600-131595200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:131594800-131596800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:131595000-131595200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:131595000-131604000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:131595200-131596000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr4:131595200-131602000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:131596000-131599200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:131596600-131597000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:131597000-131602000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:131597800-131598200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:131599200-131600200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr4:131601600-131602400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:131601800-131602600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:131602000-131602400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:131602000-131602400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:131602000-131602400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:131602000-131603600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:131602200-131602600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:131602400-131603200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:131603600-131604200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:131604000-131604200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:131604200-131604400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:131610200-131611000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:131619200-131623200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:131620400-131621400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:131622800-131623000	Enhancers	HMEC	breast
45	chr4:131623000-131624000	Weak transcription	HMEC	breast
46	chr4:131623200-131623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:131623600-131624000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:131624000-131626200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:131624000-131626800	Enhancers	HMEC	breast
50	chr4:131624400-131626200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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