Variant report

Variant	esv3450193
Chromosome Location	chr7:7569935-7570382
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	chr7:7565660..7568561-chr7:7568925..7570438,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190506773	chr7:7569964-7569965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191370947	chr7:7569998-7569999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10259911	chr7:7570018-7570019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540629015	chr7:7570021-7570022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559122134	chr7:7570028-7570029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183670542	chr7:7570053-7570054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114424196	chr7:7570062-7570063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562911241	chr7:7570081-7570082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140711897	chr7:7570098-7570099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542200764	chr7:7570103-7570104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17522077	chr7:7570104-7570105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527319750	chr7:7570124-7570125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551743324	chr7:7570184-7570185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563854383	chr7:7570200-7570201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531278029	chr7:7570214-7570215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188372435	chr7:7570216-7570217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576635191	chr7:7570217-7570218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77707692	chr7:7570221-7570222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75142595	chr7:7570228-7570229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145657708	chr7:7570244-7570245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534215921	chr7:7570294-7570295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201279493	chr7:7570316-7570317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140437253	chr7:7570317-7570318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530451508	chr7:7570323-7570324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369034034	chr7:7570326-7570327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138194627	chr7:7570327-7570328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577435126	chr7:7570336-7570337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34125918	chr7:7570369-7570370	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7528600-7575400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:7564200-7575200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:7569200-7570200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:7569200-7571000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:7569400-7575400	Weak transcription	Fetal Kidney	kidney
6	chr7:7570200-7579800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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