Variant report

Variant	esv3527321
Chromosome Location	chr7:7542215-7542690
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	chr1:234735823..234738754-chr7:7542030..7544124,2	MCF-7	breast:

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	rs536763650	chr7:7542218-7542219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555002469	chr7:7542226-7542227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190214199	chr7:7542237-7542238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568502799	chr7:7542245-7542246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7810134	chr7:7542265-7542266	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553120576	chr7:7542287-7542288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181917088	chr7:7542308-7542309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577896911	chr7:7542321-7542322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553904645	chr7:7542414-7542415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572862173	chr7:7542442-7542443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531705175	chr7:7542474-7542475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543944626	chr7:7542480-7542481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527470860	chr7:7542518-7542519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11764409	chr7:7542541-7542542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199855347	chr7:7542608-7542609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200503182	chr7:7542609-7542610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187271560	chr7:7542661-7542662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7528000-7545600	Weak transcription	Placenta	Placenta
2	chr7:7528600-7575400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:7529000-7557600	Weak transcription	Pancreas	Pancrea
4	chr7:7533800-7544600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:7538800-7544200	Weak transcription	Brain Germinal Matrix	brain
6	chr7:7539800-7544200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:7541000-7543000	Enhancers	NHDF-Ad	bronchial
8	chr7:7541800-7545400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:7542000-7544200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:7542000-7552200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:7542200-7544600	Weak transcription	Fetal Intestine Small	intestine

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