Variant report

Variant	esv3365824
Chromosome Location	chr7:15556159-15556478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563364461	chr7:15556194-15556195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140406868	chr7:15556195-15556196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545926403	chr7:15556203-15556204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564315834	chr7:15556207-15556208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528725021	chr7:15556209-15556210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115297948	chr7:15556258-15556259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73066260	chr7:15556283-15556284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12333780	chr7:15556353-15556354	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145519194	chr7:15556379-15556380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538054072	chr7:15556385-15556386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569686668	chr7:15556391-15556392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35894875	chr7:15556435-15556436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138121848	chr7:15556437-15556438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558714293	chr7:15556438-15556439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550308236	chr7:15556441-15556442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570624327	chr7:15556468-15556469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142816328	chr7:15556474-15556475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553142959	chr7:15556475-15556476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15554400-15556800	Enhancers	HUVEC	blood vessel
2	chr7:15554400-15557000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:15554800-15557600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:15555200-15556200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:15555200-15556200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:15555200-15556400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:15555400-15556400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:15555400-15556600	Enhancers	NHDF-Ad	bronchial
9	chr7:15555400-15557200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:15555600-15556400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:15555600-15556400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:15555600-15556600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:15555600-15556600	Enhancers	Osteobl	bone
14	chr7:15555800-15557600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:15556200-15556400	Enhancers	Brain Anterior Caudate	brain
16	chr7:15556200-15556600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:15556200-15556600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:15556200-15557600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:15556400-15556600	Enhancers	Brain Substantia Nigra	brain
20	chr7:15556400-15556600	Enhancers	Fetal Muscle Leg	muscle
21	chr7:15556400-15557600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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