Variant report

Variant	nsv1009652
Chromosome Location	chr3:89407075-89420476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 550 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558709977	chr3:89407176-89407177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562953876	chr3:89407191-89407192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143758745	chr3:89407192-89407193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192273891	chr3:89407197-89407198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528317879	chr3:89407219-89407220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561016444	chr3:89407220-89407221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529494754	chr3:89407238-89407239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9842599	chr3:89407256-89407257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs116622375	chr3:89407288-89407289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533668368	chr3:89407290-89407291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184190559	chr3:89407303-89407304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570084316	chr3:89407312-89407313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537415330	chr3:89407324-89407325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549241056	chr3:89407392-89407393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369522926	chr3:89407498-89407499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534557577	chr3:89407508-89407509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553129069	chr3:89407542-89407543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148153436	chr3:89407552-89407553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111565107	chr3:89407563-89407564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556809105	chr3:89407669-89407670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111841296	chr3:89407687-89407688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542199962	chr3:89407746-89407747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560858178	chr3:89407781-89407782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141975462	chr3:89407845-89407846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372638194	chr3:89407871-89407872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539899049	chr3:89407929-89407930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559908425	chr3:89407987-89407988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574690159	chr3:89408091-89408092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542197261	chr3:89408111-89408112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147328969	chr3:89408203-89408204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533534322	chr3:89408210-89408211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144300384	chr3:89408228-89408229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371248460	chr3:89408230-89408231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115167098	chr3:89408273-89408274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563951868	chr3:89408290-89408291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187817444	chr3:89408298-89408299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192258609	chr3:89408329-89408330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563493506	chr3:89408414-89408415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567701470	chr3:89408415-89408416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530936635	chr3:89408452-89408453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184412656	chr3:89408453-89408454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188714804	chr3:89408455-89408456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372923909	chr3:89408457-89408458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546743338	chr3:89408500-89408501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191626388	chr3:89408506-89408507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571130774	chr3:89408512-89408513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538422958	chr3:89408557-89408558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376066795	chr3:89408585-89408586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62275015	chr3:89408594-89408595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs74885728	chr3:89408595-89408596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89392600-89417400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:89404400-89417600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:89407400-89407600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:89407800-89409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:89409000-89409800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:89409200-89409400	Enhancers	Fetal Lung	lung
7	chr3:89409200-89409600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:89409200-89409800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:89409200-89409800	Enhancers	Hela-S3	cervix
10	chr3:89409200-89410000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:89409400-89409800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:89409400-89410000	Enhancers	NHDF-Ad	bronchial
13	chr3:89409400-89410600	Weak transcription	Fetal Lung	lung
14	chr3:89409600-89410000	Enhancers	NH-A	brain
15	chr3:89410200-89410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:89410200-89410400	Enhancers	Fetal Brain Female	brain
17	chr3:89410400-89412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:89410400-89421200	Weak transcription	Fetal Brain Female	brain
19	chr3:89410600-89414000	Enhancers	Fetal Lung	lung
20	chr3:89411600-89411800	Enhancers	Fetal Muscle Leg	muscle
21	chr3:89411800-89412600	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:89412600-89413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:89412600-89413400	Enhancers	Fetal Muscle Leg	muscle
24	chr3:89413200-89413600	Enhancers	Rectal Smooth Muscle	rectum
25	chr3:89413400-89413800	Enhancers	Ovary	ovary
26	chr3:89413400-89415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:89414000-89418000	Weak transcription	Fetal Lung	lung
28	chr3:89415800-89417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:89417200-89417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:89417200-89418000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:89417400-89417800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:89417600-89417800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:89417600-89418000	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr3:89417800-89433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:89418000-89418200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:89418000-89421000	Weak transcription	Brain Germinal Matrix	brain

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