Variant report

Variant	nsv824228
Chromosome Location	chr7:97656520-97657118
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	chr2:154695219..154695874-chr7:97656418..97657125,2	MCF-7	breast:
2	chr7:97656294..97658783-chr7:97701191..97703989,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 89 )

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	rs556351047	chr7:97656534-97656535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537646349	chr7:97656578-97656579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556282153	chr7:97656581-97656582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544941936	chr7:97656593-97656594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141121317	chr7:97656621-97656622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187327241	chr7:97656658-97656659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs847558	chr7:97656659-97656660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11979800	chr7:97656677-97656678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs373787108	chr7:97656707-97656708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376022603	chr7:97656715-97656716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35040276	chr7:97656716-97656717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78656954	chr7:97656718-97656719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398005527	chr7:97656732-97656733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397949631	chr7:97656733-97656734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560986975	chr7:97656779-97656780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150270948	chr7:97656796-97656797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543513357	chr7:97656800-97656801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191719705	chr7:97656803-97656804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532753339	chr7:97656810-97656811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547743179	chr7:97656814-97656815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541494240	chr7:97656830-97656831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137938017	chr7:97656863-97656864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183948905	chr7:97656953-97656954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548998823	chr7:97656963-97656964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76722659	chr7:97656964-97656965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369533394	chr7:97656969-97656970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146088938	chr7:97657003-97657004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531171513	chr7:97657005-97657006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547130491	chr7:97657030-97657031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200285400	chr7:97657048-97657049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556312278	chr7:97657057-97657058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571326241	chr7:97657058-97657059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28445442	chr7:97657093-97657094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97649200-97668000	Weak transcription	Right Atrium	heart

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