Variant report

Variant	nsv537075
Chromosome Location	chr4:45720231-45829325
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	chr4:45552524..45553420-chr4:45743730..45744526,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABRG1-1	chr4:45724760-45725078	XLOC_003943
2	lnc-GABRG1-1	chr4:45810636-45810670	XLOC_003943

Variant related genes	Relation type
ATG7	miRNA target sites
TCF12	miRNA target sites

Extended variants
information (count: 1105 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1105 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557274780	chr4:45724785-45724786	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs112409704	chr4:45724795-45724796	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs202012584	chr4:45724856-45724857	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs200189024	chr4:45724861-45724862	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs201120632	chr4:45724866-45724867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs201947685	chr4:45724915-45724916	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs199921254	chr4:45724917-45724918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs13117580	chr4:45724926-45724927	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs201097586	chr4:45724929-45724930	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs202139463	chr4:45724941-45724942	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs113239591	chr4:45724944-45724945	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs35601323	chr4:45724968-45724969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs143785951	chr4:45725018-45725019	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs566820763	chr4:45725020-45725021	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs542676454	chr4:45725037-45725038	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs183800011	chr4:45725070-45725071	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs562832019	chr4:45733657-45733658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529836014	chr4:45733682-45733683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548408282	chr4:45733707-45733708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369043008	chr4:45733786-45733787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566548437	chr4:45733842-45733843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150130748	chr4:45733847-45733848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373310319	chr4:45733851-45733852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572063551	chr4:45733912-45733913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79043348	chr4:45733946-45733947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537474913	chr4:45733948-45733949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111888163	chr4:45733955-45733956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539844711	chr4:45734003-45734004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535668747	chr4:45734021-45734022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554295062	chr4:45734026-45734027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572688000	chr4:45734027-45734028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184560570	chr4:45734079-45734080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553269675	chr4:45734198-45734199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576485981	chr4:45734221-45734222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376727478	chr4:45734344-45734345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115042663	chr4:45734349-45734350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562648005	chr4:45734355-45734356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74853111	chr4:45734390-45734391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189831298	chr4:45734391-45734392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181031861	chr4:45734406-45734407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527463861	chr4:45734461-45734462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551876054	chr4:45734477-45734478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563805215	chr4:45734520-45734521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531217492	chr4:45734525-45734526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549703688	chr4:45734526-45734527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184399713	chr4:45734531-45734532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189427715	chr4:45734538-45734539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547755930	chr4:45734542-45734543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544792712	chr4:45734561-45734562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566303576	chr4:45734576-45734577	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45733600-45734800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:45734000-45734400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:45734000-45734600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:45734000-45734600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:45734000-45734800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:45734200-45734600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:45734600-45735800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:45742800-45743800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:45744000-45744200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:45744600-45744800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr4:45744800-45745600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr4:45745400-45745600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:45753000-45754200	Enhancers	Colon Smooth Muscle	Colon
14	chr4:45753000-45755400	Enhancers	Fetal Lung	lung
15	chr4:45753400-45753800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr4:45753400-45755800	Enhancers	Fetal Heart	heart
17	chr4:45753800-45755200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:45755200-45755400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:45763400-45763800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:45766600-45767400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:45766600-45769000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:45767200-45767800	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:45767200-45768800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:45767400-45767600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:45767600-45767800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:45767800-45768000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:45767800-45768200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:45768000-45769000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:45768200-45768600	Enhancers	Primary hematopoietic stem cells	blood
30	chr4:45768800-45773000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:45769000-45778000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:45772800-45773200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:45773000-45773400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:45773000-45773600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:45773000-45773600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr4:45773200-45773400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:45777600-45778600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:45778000-45778600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:45795600-45797800	Enhancers	Colon Smooth Muscle	Colon
40	chr4:45797200-45798200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr4:45797400-45798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:45797600-45798200	Enhancers	Ovary	ovary
43	chr4:45797600-45798200	Enhancers	Rectal Smooth Muscle	rectum
44	chr4:45797600-45798400	Enhancers	Fetal Stomach	stomach
45	chr4:45798200-45801000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:45801000-45801400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:45823400-45823600	Enhancers	Spleen	Spleen
48	chr4:45823400-45823800	ZNF genes & repeats	Gastric	stomach
49	chr4:45829000-45829600	Enhancers	Fetal Heart	heart

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