Variant report

Variant	esv3352457
Chromosome Location	chr7:17100234-17100742
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	chr7:17100496..17103422-chr7:17133231..17136201,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139107169	chr7:17100234-17100235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180711056	chr7:17100251-17100252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561236052	chr7:17100268-17100269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75195447	chr7:17100269-17100270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1030510	chr7:17100273-17100274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs78224952	chr7:17100275-17100276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532433359	chr7:17100310-17100311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184003226	chr7:17100326-17100327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566611720	chr7:17100333-17100334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533852219	chr7:17100337-17100338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549308975	chr7:17100371-17100372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567547856	chr7:17100391-17100392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537876131	chr7:17100411-17100412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556163598	chr7:17100412-17100413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62444471	chr7:17100425-17100426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538681900	chr7:17100426-17100427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554081422	chr7:17100551-17100552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572640010	chr7:17100598-17100599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188444515	chr7:17100604-17100605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376665833	chr7:17100623-17100624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143979454	chr7:17100646-17100647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562474164	chr7:17100691-17100692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146462526	chr7:17100701-17100702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6942599	chr7:17100702-17100703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564906671	chr7:17100725-17100726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143152477	chr7:17100739-17100740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373398660	chr7:17100742-17100743	Weak transcription	n/a	n/a	Overlapped CNVs	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
Melanoma	17363583	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
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17095600-17108800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:17096800-17100400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:17098800-17101600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:17098800-17102400	Weak transcription	Osteobl	bone
5	chr7:17098800-17107800	Weak transcription	HMEC	breast
6	chr7:17099000-17101200	Weak transcription	NHDF-Ad	bronchial
7	chr7:17099000-17102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:17099000-17102400	Weak transcription	HUVEC	blood vessel
9	chr7:17099200-17100400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr7:17099400-17102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:17100000-17102200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:17100000-17102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:17100200-17100400	Enhancers	Dnd41	blood
14	chr7:17100400-17102200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:17100400-17104600	Weak transcription	Monocytes-CD14+_RO01746	blood

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