Variant report

Variant	nsv966882
Chromosome Location	chr7:126507155-126511022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:126509086-126509186	K562	blood:	n/a	n/a
2	POLR2A	chr7:126507271-126507506	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:126508141-126508405	MCF-7	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF800-7	chr7:126508821-126510586	NONHSAT123122

Variant related genes	Relation type
ENSG00000224981	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569209597	chr7:126508282-126508283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs118097138	chr7:126508316-126508317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561677776	chr7:126508362-126508363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566768376	chr7:126508393-126508394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533149877	chr7:126508826-126508827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs551687866	chr7:126508830-126508831	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs191043857	chr7:126508915-126508916	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs534393438	chr7:126508919-126508920	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs557467527	chr7:126508927-126508928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs368671549	chr7:126508969-126508970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs116346107	chr7:126508986-126508987	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs370062791	chr7:126509001-126509002	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs139943745	chr7:126509014-126509015	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535164001	chr7:126509046-126509047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs561270183	chr7:126509074-126509075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs182169562	chr7:126509088-126509089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs186490709	chr7:126509102-126509103	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs191140445	chr7:126509111-126509112	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs183356042	chr7:126509115-126509116	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs188819039	chr7:126509138-126509139	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs145358295	chr7:126509147-126509148	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs374333313	chr7:126509154-126509155	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs191418154	chr7:126509252-126509253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs151026439	chr7:126509372-126509373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs571027121	chr7:126509378-126509379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs139992926	chr7:126509410-126509411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs533191100	chr7:126509449-126509450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs34221410	chr7:126509463-126509464	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs551330285	chr7:126509493-126509494	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs560437162	chr7:126509509-126509510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs10282276	chr7:126509513-126509514	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs113225947	chr7:126509514-126509515	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs549564668	chr7:126509522-126509523	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs567804187	chr7:126509566-126509567	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs149851413	chr7:126509604-126509605	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs550729504	chr7:126509628-126509629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs568938220	chr7:126509639-126509640	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs77754518	chr7:126509647-126509648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs183277151	chr7:126509723-126509724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs573099801	chr7:126509731-126509732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs533881058	chr7:126509856-126509857	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs555629995	chr7:126509861-126509862	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs145836071	chr7:126509912-126509913	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs561398597	chr7:126509914-126509915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs562375450	chr7:126509988-126509989	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs71177572	chr7:126510007-126510008	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs56795814	chr7:126510015-126510016	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs541838615	chr7:126510104-126510105	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs367864148	chr7:126510152-126510153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs34017225	chr7:126510170-126510171	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126508200-126508400	Enhancers	Pancreas	Pancrea

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