Variant report

Variant	nsv512135
Chromosome Location	chr10:997493-999461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:993234..997786-chr10:1013619..1016483,4	MCF-7	breast:
2	chr10:979434..982350-chr10:995576..997645,2	MCF-7	breast:
3	chr10:995726..997603-chr10:1033507..1035656,2	K562	blood:
4	chr10:993243..997969-chr10:1000077..1005831,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL359878.1-1	chr10:997609-997718	NONHSAT010887
2	lnc-AL359878.1-1	chr10:999388-1000122	NONHSAT010887

Variant related genes	Relation type
ENSG00000205740	chromatin interactions
ENSG00000107937	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137877050	chr10:997524-997525	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs7093767	chr10:997560-997561	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117555188	chr10:997573-997574	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564750174	chr10:997630-997631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs190760542	chr10:997632-997633	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs183488277	chr10:997639-997640	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs7093910	chr10:997673-997674	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140833606	chr10:997707-997708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs71494941	chr10:998845-998846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112859672	chr10:998899-998900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144845918	chr10:998949-998950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71491329	chr10:999001-999002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148647279	chr10:999157-999158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545756384	chr10:999261-999262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546455730	chr10:999328-999329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566558159	chr10:999354-999355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs5028397	chr10:999413-999414	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs374950848	chr10:999417-999418	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs538781339	chr10:999455-999456	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:998800-1026200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:999400-999800	Weak transcription	Lung	lung

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