Variant report

Variant	nsv8170
Chromosome Location	chr7:79330071-79335091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 202 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10261350	chr7:79330175-79330176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566492086	chr7:79330185-79330186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369909036	chr7:79330212-79330213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1916738	chr7:79330221-79330222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142270566	chr7:79330230-79330231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371089350	chr7:79330231-79330232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537133362	chr7:79330278-79330279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79721292	chr7:79330330-79330331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78186245	chr7:79330335-79330336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74908937	chr7:79330340-79330341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553444706	chr7:79330343-79330344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572370808	chr7:79330345-79330346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538129245	chr7:79330353-79330354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145455015	chr7:79330403-79330404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541348110	chr7:79330458-79330459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71953655	chr7:79330479-79330480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71518941	chr7:79330480-79330481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs5885150	chr7:79330481-79330482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1523849	chr7:79330503-79330504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145826906	chr7:79330521-79330522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368089443	chr7:79330522-79330523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182118681	chr7:79330523-79330524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187763853	chr7:79330599-79330600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546634865	chr7:79330624-79330625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563045363	chr7:79330656-79330657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531938505	chr7:79330811-79330812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551743623	chr7:79330834-79330835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74720103	chr7:79330877-79330878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528757922	chr7:79330883-79330884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150026710	chr7:79330926-79330927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542210124	chr7:79330944-79330945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111710383	chr7:79330978-79330979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537655386	chr7:79330981-79330982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192890713	chr7:79330995-79330996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145364598	chr7:79330998-79330999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113649184	chr7:79331049-79331050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553383484	chr7:79331061-79331062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573312277	chr7:79331064-79331065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534581962	chr7:79331086-79331087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572584429	chr7:79331101-79331102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554873275	chr7:79331105-79331106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574498433	chr7:79331106-79331107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543610584	chr7:79331113-79331114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563180802	chr7:79331128-79331129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576524982	chr7:79331129-79331130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545521184	chr7:79331181-79331182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs66830835	chr7:79331187-79331188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34967385	chr7:79331191-79331192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2714650	chr7:79331233-79331234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188272381	chr7:79331274-79331275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79323000-79331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:79331600-79332000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:79332000-79339000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:79334400-79334800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:79334800-79335200	Enhancers	Brain Cingulate Gyrus	brain

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