Variant report

Variant	nsv971537
Chromosome Location	chr7:109420058-109424996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 257 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560650331	chr7:109420066-109420067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569976183	chr7:109420068-109420069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184618773	chr7:109420081-109420082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3107924	chr7:109420085-109420086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557583965	chr7:109420097-109420098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534513840	chr7:109420102-109420103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554418986	chr7:109420110-109420111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574408293	chr7:109420117-109420118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543386853	chr7:109420126-109420127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144201016	chr7:109420172-109420173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370000298	chr7:109420186-109420187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576803003	chr7:109420195-109420196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189850120	chr7:109420213-109420214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576265398	chr7:109420228-109420229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527858892	chr7:109420246-109420247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541656943	chr7:109420257-109420258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3114818	chr7:109420261-109420262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147809363	chr7:109420272-109420273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141747805	chr7:109420309-109420310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10657206	chr7:109420310-109420311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386410988	chr7:109420313-109420314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397708918	chr7:109420314-109420315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375495492	chr7:109420315-109420316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140180659	chr7:109420352-109420353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529102156	chr7:109420391-109420392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3114817	chr7:109420413-109420414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572799599	chr7:109420435-109420436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552596361	chr7:109420452-109420453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547044608	chr7:109420461-109420462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565860965	chr7:109420501-109420502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534476246	chr7:109420529-109420530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554327371	chr7:109420568-109420569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567943618	chr7:109420569-109420570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540178004	chr7:109420611-109420612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369337740	chr7:109420637-109420638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576725644	chr7:109420644-109420645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545502376	chr7:109420649-109420650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114509442	chr7:109420666-109420667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572956249	chr7:109420677-109420678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566719889	chr7:109420686-109420687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541972489	chr7:109420693-109420694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561461276	chr7:109420699-109420700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181708036	chr7:109420752-109420753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114960788	chr7:109420763-109420764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559464355	chr7:109420765-109420766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184682254	chr7:109420773-109420774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370899492	chr7:109420777-109420778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150043356	chr7:109420811-109420812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528546449	chr7:109420812-109420813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145364941	chr7:109420836-109420837	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109419600-109420600	Weak transcription	Dnd41	blood
2	chr7:109420600-109422600	Enhancers	Dnd41	blood
3	chr7:109422600-109422800	Flanking Active TSS	Dnd41	blood
4	chr7:109422800-109423000	Enhancers	Dnd41	blood
5	chr7:109423000-109423200	Flanking Active TSS	Dnd41	blood
6	chr7:109423200-109425600	Enhancers	Dnd41	blood

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