Variant report

Variant	nsv595422
Chromosome Location	chr4:131569148-131749327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:131585119..131587841-chr4:131589594..131591630,2	MCF-7	breast:
2	chr4:131484407..131485248-chr4:131695339..131695944,3	MCF-7	breast:
3	chr4:131728045..131729636-chr4:131752595..131755137,2	K562	blood:
4	chr4:131523291..131525354-chr4:131632545..131634300,2	K562	blood:
5	chr4:131585119..131587841-chr4:131589594..131591630,2	MCF-7	breast:
6	chr4:131484502..131485054-chr4:131625879..131626789,3	MCF-7	breast:
7	chr4:131669140..131669695-chr4:131729818..131730848,3	MCF-7	breast:
8	chr12:97890108..97893105-chr4:131617432..131619842,2	MCF-7	breast:
9	chr4:131669140..131669695-chr4:131729818..131730848,3	MCF-7	breast:
10	chr4:131484711..131485241-chr4:131729403..131730049,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf33-8	chr4:131729666-131733073	NONHSAT098306

No data

Extended variants
information (count: 3418 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:3418 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111624275	chr4:131569402-131569403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551691797	chr4:131569409-131569410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1304894	chr4:131569446-131569447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs71614835	chr4:131569448-131569449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549116160	chr4:131569452-131569453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76825609	chr4:131569474-131569475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528541920	chr4:131569484-131569485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188837333	chr4:131569485-131569486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193258414	chr4:131569496-131569497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573565942	chr4:131569535-131569536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376279665	chr4:131569564-131569565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149952202	chr4:131569575-131569576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542256841	chr4:131569578-131569579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116412972	chr4:131569606-131569607	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79405938	chr4:131569631-131569632	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114114755	chr4:131569658-131569659	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185396563	chr4:131569704-131569705	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189606367	chr4:131569729-131569730	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs180835037	chr4:131569787-131569788	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73851230	chr4:131569808-131569809	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs36075859	chr4:131569813-131569814	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs112454337	chr4:131569828-131569829	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562952128	chr4:131569836-131569837	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs73851231	chr4:131569839-131569840	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73851232	chr4:131569844-131569845	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528672683	chr4:131569943-131569944	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs546822453	chr4:131569959-131569960	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545352549	chr4:131569964-131569965	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs571713946	chr4:131570027-131570028	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560798935	chr4:131570034-131570035	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs78228963	chr4:131570054-131570055	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550954047	chr4:131570071-131570072	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs569190772	chr4:131570073-131570074	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs116496888	chr4:131570082-131570083	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs549445582	chr4:131570087-131570088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs185808661	chr4:131570101-131570102	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554826165	chr4:131570125-131570126	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145728173	chr4:131570153-131570154	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs116118238	chr4:131570172-131570173	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs558415045	chr4:131570177-131570178	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576479652	chr4:131570178-131570179	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543811778	chr4:131570206-131570207	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555703392	chr4:131570208-131570209	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs566992875	chr4:131570210-131570211	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376877214	chr4:131570227-131570228	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs575552274	chr4:131570245-131570246	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs148920281	chr4:131570367-131570368	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs34330995	chr4:131570370-131570371	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528729123	chr4:131570397-131570398	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs545733795	chr4:131572029-131572030	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131569400-131569600	Enhancers	Liver	Liver
2	chr4:131569600-131569800	Active TSS	Dnd41	blood
3	chr4:131569600-131570000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:131569600-131570000	Flanking Active TSS	Liver	Liver
5	chr4:131569600-131570200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:131569800-131570000	Flanking Active TSS	Dnd41	blood
7	chr4:131570000-131570200	Active TSS	Liver	Liver
8	chr4:131570200-131570400	Flanking Active TSS	Liver	Liver
9	chr4:131572000-131572800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:131578600-131579000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:131590400-131591200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:131591000-131591200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:131591000-131591200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:131591200-131591800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:131591200-131592600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:131591200-131594600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:131591800-131593800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:131592400-131593000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:131592400-131593600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:131592400-131593600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:131592600-131592800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:131592800-131593800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:131593000-131593400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:131593400-131597800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:131593800-131595000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:131594200-131595000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:131594400-131594600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr4:131594600-131594800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:131594600-131595200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:131594800-131596800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:131595000-131595200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:131595000-131604000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:131595200-131596000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr4:131595200-131602000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:131596000-131599200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:131596600-131597000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:131597000-131602000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:131597800-131598200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:131599200-131600200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr4:131601600-131602400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:131601800-131602600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:131602000-131602400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:131602000-131602400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr4:131602000-131602400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:131602000-131603600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:131602200-131602600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:131602400-131603200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:131603600-131604200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:131604000-131604200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:131604200-131604400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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