Variant report

Variant	esv3382520
Chromosome Location	chr7:7152950-7153383
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	chr7:7152616..7154632-chr7:7156604..7158282,2	K562	blood:
2	chr7:7152128..7153936-chr7:7218003..7219590,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCZ1B-6	chr7:7152259-7153318	NONHSAT119099

Extended variants
information (count: 17 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542650167	chr7:7152966-7152967	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs151321846	chr7:7152981-7152982	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs528034069	chr7:7152998-7152999	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs4724944	chr7:7153009-7153010	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558186755	chr7:7153056-7153057	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs73674614	chr7:7153075-7153076	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs139966393	chr7:7153084-7153085	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs6960000	chr7:7153100-7153101	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185258837	chr7:7153112-7153113	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs566753074	chr7:7153116-7153117	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs147034979	chr7:7153166-7153167	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs573851753	chr7:7153188-7153189	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs11763673	chr7:7153191-7153192	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571538392	chr7:7153274-7153275	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs7793418	chr7:7153319-7153320	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556861516	chr7:7153347-7153348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190354522	chr7:7153379-7153380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7144000-7154600	Weak transcription	Right Atrium	heart
2	chr7:7145200-7155600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:7150600-7162400	Weak transcription	Small Intestine	intestine
4	chr7:7150800-7154000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:7150800-7154200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:7151000-7154200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:7152800-7153200	Weak transcription	Stomach Mucosa	stomach
8	chr7:7152800-7154400	Enhancers	HepG2	liver

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