Variant report

Variant	nsv968235
Chromosome Location	chr5:115106356-115107150
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	chr5:114970470..114971000-chr5:115106287..115106794,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP3S1-7	chr5:115106283-115106686	NONHSAT103323

Extended variants
information (count: 28 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10069550	chr5:115106428-115106429	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539333603	chr5:115106442-115106443	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs546521029	chr5:115106455-115106456	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs564391303	chr5:115106472-115106473	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs564376925	chr5:115106478-115106479	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs143007268	chr5:115106557-115106558	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs147535833	chr5:115106612-115106613	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs575645290	chr5:115106622-115106623	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs368429284	chr5:115106629-115106630	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs540827973	chr5:115106631-115106632	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs578090790	chr5:115106645-115106646	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs140223460	chr5:115106704-115106705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560782685	chr5:115106705-115106706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547042959	chr5:115106722-115106723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143976988	chr5:115106789-115106790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542857107	chr5:115106797-115106798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568448356	chr5:115106803-115106804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs888859	chr5:115106833-115106834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144320201	chr5:115106846-115106847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533474397	chr5:115106885-115106886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563907556	chr5:115106896-115106897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191618850	chr5:115106924-115106925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546445549	chr5:115106978-115106979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566441509	chr5:115106997-115106998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183476996	chr5:115107028-115107029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76213056	chr5:115107035-115107036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186086296	chr5:115107063-115107064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148777080	chr5:115107075-115107076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115091800-115117200	Weak transcription	Liver	Liver
2	chr5:115103200-115107200	Weak transcription	Adipose Nuclei	Adipose
3	chr5:115106000-115106600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:115106200-115106400	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:115106200-115109000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:115106400-115108800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:115106400-115112000	Enhancers	Fetal Muscle Leg	muscle

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