Variant report

Variant	esv3422335
Chromosome Location	chr7:7582452-7585300
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: 87 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367774117	chr7:7582523-7582524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144743894	chr7:7582555-7582556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574473912	chr7:7582585-7582586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574764633	chr7:7582590-7582591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535084961	chr7:7582600-7582601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35475887	chr7:7582634-7582635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145744340	chr7:7582662-7582663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551701789	chr7:7582663-7582664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571938279	chr7:7582695-7582696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577736109	chr7:7582710-7582711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187137493	chr7:7582758-7582759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73353651	chr7:7582761-7582762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192040241	chr7:7582773-7582774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372702570	chr7:7582788-7582789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543605396	chr7:7582811-7582812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561982279	chr7:7582818-7582819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148879561	chr7:7582829-7582830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184225030	chr7:7582846-7582847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548609594	chr7:7582861-7582862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538582482	chr7:7582868-7582869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560574090	chr7:7582882-7582883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143549005	chr7:7582923-7582924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11977254	chr7:7582929-7582930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570841548	chr7:7582934-7582935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538072079	chr7:7582977-7582978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549354666	chr7:7583005-7583006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560251507	chr7:7583020-7583021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11977284	chr7:7583038-7583039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375613428	chr7:7583039-7583040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369400234	chr7:7583076-7583077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535787077	chr7:7583080-7583081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189025879	chr7:7583096-7583097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572037714	chr7:7583097-7583098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539051050	chr7:7583113-7583114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557852092	chr7:7583127-7583128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576175109	chr7:7583137-7583138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193010565	chr7:7583148-7583149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543643406	chr7:7583176-7583177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561823048	chr7:7583217-7583218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117918827	chr7:7583240-7583241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368673127	chr7:7583268-7583269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559362693	chr7:7583272-7583273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527718941	chr7:7583282-7583283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552254809	chr7:7583304-7583305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564609301	chr7:7583345-7583346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554018800	chr7:7583367-7583368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549855720	chr7:7583376-7583377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9640043	chr7:7583393-7583394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11977978	chr7:7583402-7583403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200038861	chr7:7583517-7583518	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:7 , 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	chr7:7580600-7582600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:7581200-7582600	Enhancers	HepG2	liver
4	chr7:7581800-7595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:7582200-7582600	Enhancers	Liver	Liver
6	chr7:7582600-7588000	Weak transcription	Liver	Liver
7	chr7:7582600-7589600	Weak transcription	Muscle Satellite Cultured Cells	--

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