Variant report

Variant	esv3477111
Chromosome Location	chr7:7583439-7584991
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	chr7:7582529..7585016-chr7:7587079..7589582,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIOS-4	chr7:7583810-7584201	expReg_chr7_675_+

Extended variants
information (count: 33 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200038861	chr7:7583517-7583518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548105675	chr7:7583544-7583545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73353656	chr7:7583549-7583550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs58920548	chr7:7583565-7583566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539442975	chr7:7583610-7583611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557419133	chr7:7583614-7583615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148070854	chr7:7583651-7583652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537181551	chr7:7583706-7583707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185725083	chr7:7583712-7583713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573907363	chr7:7583733-7583734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540852139	chr7:7583801-7583802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386709947	chr7:7583846-7583847	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs189136950	chr7:7583847-7583848	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs546189726	chr7:7583876-7583877	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs564182119	chr7:7583925-7583926	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs60763522	chr7:7583946-7583947	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs28621632	chr7:7583953-7583954	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs561833606	chr7:7583958-7583959	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs572148574	chr7:7583966-7583967	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs547650827	chr7:7583968-7583969	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs565454796	chr7:7584034-7584035	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs566363247	chr7:7584050-7584051	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs369955330	chr7:7584082-7584083	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs373571122	chr7:7584137-7584138	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs9655512	chr7:7584262-7584263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558046401	chr7:7584271-7584272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552039060	chr7:7584351-7584352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569712916	chr7:7584488-7584489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201209537	chr7:7584619-7584620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201833477	chr7:7584701-7584702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555534617	chr7:7584734-7584735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199842845	chr7:7584802-7584803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567334684	chr7:7584914-7584915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7575800-7593000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:7581800-7595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:7582600-7588000	Weak transcription	Liver	Liver
4	chr7:7582600-7589600	Weak transcription	Muscle Satellite Cultured Cells	--

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