Variant report

Variant	nsv824011
Chromosome Location	chr7:10819595-10820369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:10809717..10814120-chr7:10815612..10822714,11	K562	blood:
2	chr7:10818173..10820348-chr7:10835092..10837253,2	K562	blood:
3	chr7:10810774..10813337-chr7:10818545..10820723,2	K562	blood:
4	chr7:10778744..10781099-chr7:10818958..10821486,2	K562	blood:
5	chr7:10818699..10822020-chr7:10830372..10832359,3	K562	blood:
6	chr7:10781219..10782750-chr7:10819283..10821233,2	K562	blood:
7	chr7:10768715..10771271-chr7:10816725..10820425,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 82 )

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	rs534258336	chr7:10819617-10819618	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs554333788	chr7:10819619-10819620	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189962166	chr7:10819622-10819623	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs137891833	chr7:10819625-10819626	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558642731	chr7:10819629-10819630	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575425087	chr7:10819633-10819634	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs73678145	chr7:10819679-10819680	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560746367	chr7:10819717-10819718	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574669890	chr7:10819729-10819730	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540209934	chr7:10819742-10819743	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560401784	chr7:10819754-10819755	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7795776	chr7:10819778-10819779	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551970003	chr7:10819814-10819815	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs182467250	chr7:10819828-10819829	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543750715	chr7:10819870-10819871	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531720413	chr7:10819913-10819914	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs548547365	chr7:10819914-10819915	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs568402709	chr7:10819981-10819982	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534503281	chr7:10820011-10820012	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187105459	chr7:10820038-10820039	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs55706508	chr7:10820048-10820049	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529337848	chr7:10820074-10820075	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs375620800	chr7:10820075-10820076	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs540001911	chr7:10820098-10820099	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs2158372	chr7:10820125-10820126	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73287635	chr7:10820149-10820150	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190998893	chr7:10820205-10820206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182618904	chr7:10820213-10820214	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113810976	chr7:10820216-10820217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540234376	chr7:10820221-10820222	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560155061	chr7:10820235-10820236	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs143332100	chr7:10820239-10820240	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545572213	chr7:10820334-10820335	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:10819200-10819600	Flanking Active TSS	K562	blood
2	chr7:10819400-10820200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:10819600-10820000	Active TSS	Spleen	Spleen
4	chr7:10819600-10821000	Active TSS	K562	blood
5	chr7:10820000-10820200	Flanking Active TSS	Spleen	Spleen

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