Variant report

Variant	esv3412567
Chromosome Location	chr7:15170132-15170656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 78 )

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	rs190959505	chr7:15170159-15170160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566086739	chr7:15170160-15170161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530752668	chr7:15170180-15170181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34033460	chr7:15170228-15170229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550465635	chr7:15170229-15170230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149981650	chr7:15170320-15170321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141821587	chr7:15170332-15170333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367810271	chr7:15170335-15170336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372928527	chr7:15170359-15170360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373337536	chr7:15170439-15170440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6977242	chr7:15170512-15170513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535922054	chr7:15170556-15170557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370556814	chr7:15170570-15170571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183568873	chr7:15170600-15170601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186622207	chr7:15170602-15170603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535068867	chr7:15170605-15170606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373694570	chr7:15170640-15170641	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15167800-15171400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:15168400-15171800	Enhancers	HUVEC	blood vessel
3	chr7:15169200-15171600	Enhancers	NHEK	skin
4	chr7:15169400-15170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:15169400-15171000	Enhancers	Hela-S3	cervix
6	chr7:15169400-15171200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:15169400-15171200	Enhancers	HMEC	breast
8	chr7:15169600-15170400	Weak transcription	Fetal Heart	heart
9	chr7:15169800-15171600	Enhancers	NH-A	brain
10	chr7:15170000-15170200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:15170000-15171000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:15170000-15171200	Enhancers	Osteobl	bone
13	chr7:15170000-15171800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:15170000-15171800	Enhancers	NHDF-Ad	bronchial
15	chr7:15170200-15171200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:15170400-15170800	Enhancers	Fetal Heart	heart
17	chr7:15170600-15171200	Enhancers	HSMM	muscle

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