Variant report

Variant	nsv526109
Chromosome Location	chr5:116824450-116825352
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	chr5:116791221..116793114-chr5:116823128..116825426,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs890779	chr5:116824450-116824451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs550461267	chr5:116824451-116824452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375924692	chr5:116824467-116824468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73258839	chr5:116824481-116824482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377647652	chr5:116824489-116824490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34993111	chr5:116824493-116824494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187096055	chr5:116824512-116824513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546651196	chr5:116824556-116824557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566149309	chr5:116824559-116824560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35336726	chr5:116824560-116824561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535057187	chr5:116824569-116824570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13357216	chr5:116824644-116824645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs137995863	chr5:116824656-116824657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569169460	chr5:116824662-116824663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191602148	chr5:116824687-116824688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560397519	chr5:116824761-116824762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558116026	chr5:116824823-116824824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578107492	chr5:116824838-116824839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370880394	chr5:116824862-116824863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540406345	chr5:116824871-116824872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554273194	chr5:116824872-116824873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184464508	chr5:116824935-116824936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187348190	chr5:116825018-116825019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561970191	chr5:116825028-116825029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530752130	chr5:116825049-116825050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555691713	chr5:116825062-116825063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149479139	chr5:116825075-116825076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12521666	chr5:116825105-116825106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143048319	chr5:116825185-116825186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57106106	chr5:116825222-116825223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1863977	chr5:116825352-116825353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:70)

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
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
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	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
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116823200-116824800	Weak transcription	NHDF-Ad	bronchial
2	chr5:116824200-116825200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:116824200-116826200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:116824400-116824600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr5:116824400-116825200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:116824800-116825200	Enhancers	NHDF-Ad	bronchial
7	chr5:116825200-116825800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:116825200-116829000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:116825200-116829400	Weak transcription	NHDF-Ad	bronchial

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