Variant report

Variant	nsv519923
Chromosome Location	chr7:10795065-10798492
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	chr7:10795829..10798121-chr7:10807049..10811087,3	K562	blood:
2	chr7:10795591..10798221-chr7:10854575..10857146,3	K562	blood:

Extended variants
information (count: 155 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7784127	chr7:10795065-10795066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144697406	chr7:10795070-10795071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562102459	chr7:10795079-10795080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76366806	chr7:10795119-10795120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575561189	chr7:10795167-10795168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367599126	chr7:10795232-10795233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538158070	chr7:10795256-10795257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148502546	chr7:10795294-10795295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187850510	chr7:10795302-10795303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540703279	chr7:10795328-10795329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560430184	chr7:10795340-10795341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191985020	chr7:10795353-10795354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7788250	chr7:10795412-10795413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562548365	chr7:10795515-10795516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375119242	chr7:10795548-10795549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531856623	chr7:10795551-10795552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543623829	chr7:10795563-10795564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563593061	chr7:10795598-10795599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527925873	chr7:10795611-10795612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532664376	chr7:10795635-10795636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546665510	chr7:10795665-10795666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145309176	chr7:10795681-10795682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538738219	chr7:10795700-10795701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552172641	chr7:10795732-10795733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147632777	chr7:10795733-10795734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369262848	chr7:10795735-10795736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199514837	chr7:10795772-10795773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140517526	chr7:10795787-10795788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538118909	chr7:10795788-10795789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554598506	chr7:10795802-10795803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574575306	chr7:10795804-10795805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116232004	chr7:10795828-10795829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553943090	chr7:10795852-10795853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576880277	chr7:10795870-10795871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545916059	chr7:10795901-10795902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561670154	chr7:10795918-10795919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183467429	chr7:10795923-10795924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576062984	chr7:10795950-10795951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542114601	chr7:10795952-10795953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2214544	chr7:10795965-10795966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547302306	chr7:10796103-10796104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188448685	chr7:10796139-10796140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193191900	chr7:10796148-10796149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564722792	chr7:10796153-10796154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182459529	chr7:10796171-10796172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552331935	chr7:10796172-10796173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527319066	chr7:10796241-10796242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531384197	chr7:10796263-10796264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548457406	chr7:10796327-10796328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3060789	chr7:10796408-10796409	Enhancers Weak transcription	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:10779800-10798200	Weak transcription	K562	blood
2	chr7:10796400-10797200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr7:10796600-10797000	Enhancers	Brain Substantia Nigra	brain
4	chr7:10796800-10797200	Enhancers	Brain Cingulate Gyrus	brain
5	chr7:10796800-10797400	Enhancers	Brain Angular Gyrus	brain
6	chr7:10798200-10800200	ZNF genes & repeats	K562	blood

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