Variant report

Variant	esv3325129
Chromosome Location	chr7:18785094-18785552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192430540	chr7:18785094-18785095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369470303	chr7:18785103-18785104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34376401	chr7:18785153-18785154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565092002	chr7:18785155-18785156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572418213	chr7:18785156-18785157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550338809	chr7:18785202-18785203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183346932	chr7:18785231-18785232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1178158	chr7:18785271-18785272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376538602	chr7:18785275-18785276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545875303	chr7:18785295-18785296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566532592	chr7:18785359-18785360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562869472	chr7:18785369-18785370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188754209	chr7:18785383-18785384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192594172	chr7:18785390-18785391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567492234	chr7:18785391-18785392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538130411	chr7:18785396-18785397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557106553	chr7:18785412-18785413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575609563	chr7:18785413-18785414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138285430	chr7:18785415-18785416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531727291	chr7:18785421-18785422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557831024	chr7:18785424-18785425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541899549	chr7:18785432-18785433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572995023	chr7:18785447-18785448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1178159	chr7:18785460-18785461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184029124	chr7:18785469-18785470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574279128	chr7:18785500-18785501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141020641	chr7:18785506-18785507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369698912	chr7:18785507-18785508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201044923	chr7:18785508-18785509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4721724	chr7:18785509-18785510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

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
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18726200-18790200	Weak transcription	Primary B cells from cord blood	blood
2	chr7:18748000-18788600	Weak transcription	Left Ventricle	heart
3	chr7:18765200-18810600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:18769600-18788600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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