Variant report

Variant	nsv525318
Chromosome Location	chr7:126063431-126074431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-4	chr7:126064175-126064239	XLOC_006236

Extended variants
information (count: 125 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137895993	chr7:126064175-126064176	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs76849240	chr7:126064188-126064189	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs190823997	chr7:126064207-126064208	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs182012083	chr7:126064224-126064225	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs142272012	chr7:126070810-126070811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546816898	chr7:126070913-126070914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188290049	chr7:126070920-126070921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536361677	chr7:126070992-126070993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554238753	chr7:126071033-126071034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569636959	chr7:126071040-126071041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377689085	chr7:126071074-126071075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570058313	chr7:126071107-126071108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9918691	chr7:126071111-126071112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146402691	chr7:126071112-126071113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192981524	chr7:126071151-126071152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555946841	chr7:126071152-126071153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563704691	chr7:126071202-126071203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556611881	chr7:126071204-126071205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139750396	chr7:126071207-126071208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144444433	chr7:126071256-126071257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374171705	chr7:126071273-126071274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9918568	chr7:126071308-126071309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs535244673	chr7:126071310-126071311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10487447	chr7:126071383-126071384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10276326	chr7:126071398-126071399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528792817	chr7:126071419-126071420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9918707	chr7:126071466-126071467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77953688	chr7:126071467-126071468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529709597	chr7:126071470-126071471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548276822	chr7:126071486-126071487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182839138	chr7:126071511-126071512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544124514	chr7:126071550-126071551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578041966	chr7:126071559-126071560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10487448	chr7:126071605-126071606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34164328	chr7:126071650-126071651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13242235	chr7:126071651-126071652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146606276	chr7:126071685-126071686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552843638	chr7:126071696-126071697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574581764	chr7:126071718-126071719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147678885	chr7:126071743-126071744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150911914	chr7:126071758-126071759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67025633	chr7:126071759-126071760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71177551	chr7:126071761-126071762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200516424	chr7:126071762-126071763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187965381	chr7:126071764-126071765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191105208	chr7:126071791-126071792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13310618	chr7:126071844-126071845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184747792	chr7:126071857-126071858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564157518	chr7:126071860-126071861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573173829	chr7:126071864-126071865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Epilepsy	21635232	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
Autism	19246517	CNVD
Pancreatic cancer	17952125	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126070800-126071200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:126070800-126071400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:126070800-126071600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:126071400-126076200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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