Variant report

Variant	nsv822172
Chromosome Location	chr3:85622156-85622827
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	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
2	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146247781	chr3:85622161-85622162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530383488	chr3:85622170-85622171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188894892	chr3:85622171-85622172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17023032	chr3:85622242-85622243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs367689943	chr3:85622308-85622309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34809115	chr3:85622352-85622353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398062543	chr3:85622356-85622357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11419520	chr3:85622375-85622376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397757098	chr3:85622377-85622378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534391269	chr3:85622435-85622436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546708629	chr3:85622469-85622470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571740329	chr3:85622496-85622497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539268577	chr3:85622551-85622552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139809892	chr3:85622558-85622559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182026015	chr3:85622621-85622622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73843662	chr3:85622659-85622660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12494446	chr3:85622663-85622664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs58889493	chr3:85622699-85622700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73137895	chr3:85622703-85622704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566048701	chr3:85622712-85622713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186988583	chr3:85622773-85622774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142674527	chr3:85622823-85622824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85621600-85623000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:85621800-85623000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:85621800-85623000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:85621800-85626400	Weak transcription	Brain Substantia Nigra	brain
5	chr3:85622000-85623000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:85622000-85625600	Weak transcription	Brain Hippocampus Middle	brain

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