Variant report

Variant	nsv968869
Chromosome Location	chr5:5390492-5394978
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	chr5:5141653..5142425-chr5:5394543..5395177,2	MCF-7	breast:
2	chr5:5141716..5142387-chr5:5394089..5395180,4	MCF-7	breast:

Extended variants
information (count: 223 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575764617	chr5:5390511-5390512	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113384633	chr5:5390512-5390513	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140866622	chr5:5390518-5390519	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373848976	chr5:5390522-5390523	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564490388	chr5:5390576-5390577	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150243295	chr5:5390581-5390582	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540565875	chr5:5390589-5390590	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56254656	chr5:5390603-5390604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11134113	chr5:5390680-5390681	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528081897	chr5:5390696-5390697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541375718	chr5:5390728-5390729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561467873	chr5:5390730-5390731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530487445	chr5:5390737-5390738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550784525	chr5:5390773-5390774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570531715	chr5:5390784-5390785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533306552	chr5:5390796-5390797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546569268	chr5:5390798-5390799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55639718	chr5:5390804-5390805	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143097573	chr5:5390807-5390808	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375257408	chr5:5390850-5390851	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555773257	chr5:5390928-5390929	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569391457	chr5:5390937-5390938	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186757561	chr5:5390970-5390971	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558374921	chr5:5390975-5390976	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11134114	chr5:5390992-5390993	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540778026	chr5:5391053-5391054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192117211	chr5:5391074-5391075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10475297	chr5:5391099-5391100	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541439402	chr5:5391183-5391184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530354459	chr5:5391184-5391185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184053065	chr5:5391192-5391193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530546423	chr5:5391212-5391213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543970286	chr5:5391229-5391230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9313110	chr5:5391231-5391232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532991542	chr5:5391259-5391260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186638435	chr5:5391265-5391266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189819237	chr5:5391278-5391279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566797526	chr5:5391295-5391296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529170279	chr5:5391298-5391299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549435371	chr5:5391305-5391306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548883573	chr5:5391361-5391362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569254537	chr5:5391384-5391385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538374809	chr5:5391445-5391446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182474966	chr5:5391460-5391461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571665019	chr5:5391487-5391488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186881171	chr5:5391563-5391564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371721078	chr5:5391641-5391642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553914071	chr5:5391656-5391657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116277341	chr5:5391671-5391672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542890944	chr5:5391680-5391681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5381000-5394400	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:5389200-5399400	Weak transcription	Aorta	Aorta
3	chr5:5390200-5390800	Enhancers	Adipose Nuclei	Adipose
4	chr5:5390200-5391800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:5390400-5390600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:5390600-5390800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:5390800-5391000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:5390800-5391200	Enhancers	Placenta	Placenta
9	chr5:5390800-5391400	Weak transcription	Adipose Nuclei	Adipose
10	chr5:5391000-5391600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:5391400-5391600	Enhancers	Adipose Nuclei	Adipose
12	chr5:5391800-5394800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:5392800-5393200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:5393000-5393200	Enhancers	Placenta	Placenta
15	chr5:5393000-5393400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:5394600-5394800	Enhancers	Pancreas	Pancrea
17	chr5:5394800-5395000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:5394800-5399600	Weak transcription	Pancreas	Pancrea

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