Variant report

Variant	nsv970770
Chromosome Location	chr7:119766356-119780294
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	chr7:119759089..119761241-chr7:119777152..119778755,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534061573	chr7:119770669-119770670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs74302541	chr7:119770705-119770706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574832778	chr7:119770747-119770748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533127952	chr7:119770767-119770768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540135371	chr7:119770816-119770817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560359218	chr7:119770835-119770836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs190440180	chr7:119770849-119770850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs558345259	chr7:119770853-119770854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs6961750	chr7:119770880-119770881	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146076735	chr7:119770895-119770896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538042782	chr7:119770942-119770943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182967816	chr7:119771012-119771013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs531680634	chr7:119771117-119771118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs4341105	chr7:119771123-119771124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187637552	chr7:119771136-119771137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561723010	chr7:119771145-119771146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs528024760	chr7:119771211-119771212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs575141750	chr7:119771245-119771246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs138313888	chr7:119771253-119771254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs143782961	chr7:119771263-119771264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539650830	chr7:119771265-119771266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550356820	chr7:119771283-119771284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs35825361	chr7:119771317-119771318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs10225178	chr7:119771385-119771386	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376300462	chr7:119771429-119771430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577332988	chr7:119771481-119771482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs546208253	chr7:119771536-119771537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs146563319	chr7:119771546-119771547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554635227	chr7:119771559-119771560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs10254471	chr7:119771562-119771563	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148337714	chr7:119771567-119771568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370804084	chr7:119771568-119771569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113302039	chr7:119771582-119771583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs190706898	chr7:119771597-119771598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537624149	chr7:119771601-119771602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs141457797	chr7:119771605-119771606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567991189	chr7:119771693-119771694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs562339203	chr7:119771719-119771720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs150888015	chr7:119771733-119771734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs183720123	chr7:119771738-119771739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560756747	chr7:119771779-119771780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs138254412	chr7:119771799-119771800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs116312466	chr7:119771817-119771818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547722608	chr7:119771905-119771906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs376027902	chr7:119771928-119771929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs189060186	chr7:119771935-119771936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533670192	chr7:119771940-119771941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149909929	chr7:119778615-119778616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545545711	chr7:119778652-119778653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556246649	chr7:119778657-119778658	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119770600-119771600	ZNF genes & repeats	Aorta	Aorta
2	chr7:119771200-119772000	ZNF genes & repeats	Lung	lung
3	chr7:119778600-119779000	Enhancers	Liver	Liver

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