Variant report

Variant	nsv967845
Chromosome Location	chr4:119579279-119588647
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	chr4:119585668..119586177-chr4:119603909..119604742,2	MCF-7	breast:
2	chr4:119585680..119586219-chr4:119890216..119890848,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC24D-1	chr4:119585242-119586354	NONHSAT098012
2	lnc-SEC24D-1	chr4:119584229-119584309	XLOC_004053
3	lnc-SEC24D-1	chr4:119585252-119586354	ENSG00000245622

Variant related genes	Relation type
TLK1	miRNA target sites

Extended variants
information (count: 46 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549337158	chr4:119584286-119584287	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs112966261	chr4:119585262-119585263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs551363287	chr4:119585285-119585286	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs201134599	chr4:119585304-119585305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs376976288	chr4:119585305-119585306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs377360401	chr4:119585367-119585368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs190093581	chr4:119585368-119585369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs183072794	chr4:119585372-119585373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs188014415	chr4:119585382-119585383	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs547655801	chr4:119585443-119585444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567388986	chr4:119585451-119585452	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs368663427	chr4:119585558-119585559	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs200104782	chr4:119585564-119585565	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs199580089	chr4:119585601-119585602	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs376549640	chr4:119585602-119585603	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs529849785	chr4:119585617-119585618	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs549872027	chr4:119585688-119585689	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs376016307	chr4:119585773-119585774	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs569778839	chr4:119585785-119585786	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs200846305	chr4:119585809-119585810	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs572773396	chr4:119585830-119585831	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs538668531	chr4:119586021-119586022	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs142454133	chr4:119586093-119586094	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs566047797	chr4:119586096-119586097	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs535045128	chr4:119586149-119586150	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs149266833	chr4:119586155-119586156	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs193039314	chr4:119586168-119586169	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs574939571	chr4:119586169-119586170	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs370670117	chr4:119586178-119586179	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs115482453	chr4:119586179-119586180	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs556310551	chr4:119586185-119586186	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs183521127	chr4:119586187-119586188	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs111460921	chr4:119586208-119586209	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs564909906	chr4:119586239-119586240	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs138143255	chr4:119586312-119586313	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs188959876	chr4:119586323-119586324	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs561195084	chr4:119586373-119586374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374230317	chr4:119586389-119586390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28484821	chr4:119588244-119588245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28502448	chr4:119588283-119588284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540060790	chr4:119588298-119588299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6828070	chr4:119588308-119588309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs146645286	chr4:119588318-119588319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4087100	chr4:119588330-119588331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28535210	chr4:119588365-119588366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189265876	chr4:119588377-119588378	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119585600-119586400	Enhancers	Liver	Liver
2	chr4:119588200-119588400	Enhancers	Liver	Liver

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