Variant report

Variant	esv3520765
Chromosome Location	chr7:48041582-48042133
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	chr7:48016950..48019113-chr7:48039129..48042039,2	K562	blood:

Variant related genes	Relation type
ENSG00000136273	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553117625	chr7:48041599-48041600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565041318	chr7:48041748-48041749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544438011	chr7:48041787-48041788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs573452865	chr7:48041820-48041821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542172134	chr7:48041826-48041827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557465333	chr7:48041858-48041859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370627602	chr7:48041860-48041861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544865109	chr7:48041905-48041906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563362281	chr7:48041906-48041907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532279590	chr7:48041917-48041918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552123169	chr7:48041924-48041925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7800590	chr7:48041945-48041946	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs185515225	chr7:48041948-48041949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548191809	chr7:48041971-48041972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191062000	chr7:48042039-48042040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536841527	chr7:48042047-48042048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556774469	chr7:48042050-48042051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570586718	chr7:48042054-48042055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369209283	chr7:48042064-48042065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115636512	chr7:48042120-48042121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138219340	chr7:48042121-48042122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116164154	chr7:48042133-48042134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48031800-48043600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:48031800-48050200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:48039000-48044000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:48040000-48046600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links