Variant report

Variant	nsv1008373
Chromosome Location	chr3:89405754-89419909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 583 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9836340	chr3:89405754-89405755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572364092	chr3:89405755-89405756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150993720	chr3:89405805-89405806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73846150	chr3:89405828-89405829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140881280	chr3:89405837-89405838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543623357	chr3:89405851-89405852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562000927	chr3:89405873-89405874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374849020	chr3:89405902-89405903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57936742	chr3:89405945-89405946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144885134	chr3:89405973-89405974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556554774	chr3:89406021-89406022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576758512	chr3:89406025-89406026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112635574	chr3:89406030-89406031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532909592	chr3:89406048-89406049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551084337	chr3:89406078-89406079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150560943	chr3:89406086-89406087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569391085	chr3:89406112-89406113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554312385	chr3:89406124-89406125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190606037	chr3:89406151-89406152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142791743	chr3:89406257-89406258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56717904	chr3:89406285-89406286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199634580	chr3:89406287-89406288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549953915	chr3:89406348-89406349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182782419	chr3:89406360-89406361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185532082	chr3:89406377-89406378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554409654	chr3:89406403-89406404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76652589	chr3:89406414-89406415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545610382	chr3:89406415-89406416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576000693	chr3:89406450-89406451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138506781	chr3:89406452-89406453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182576359	chr3:89406508-89406509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576598237	chr3:89406511-89406512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543686501	chr3:89406535-89406536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140242402	chr3:89406554-89406555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188044025	chr3:89406555-89406556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540984919	chr3:89406564-89406565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559572507	chr3:89406576-89406577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532817774	chr3:89406610-89406611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544590121	chr3:89406611-89406612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563083780	chr3:89406612-89406613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530518582	chr3:89406624-89406625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145319031	chr3:89406639-89406640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553058095	chr3:89406647-89406648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112627209	chr3:89406668-89406669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137971396	chr3:89406687-89406688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573307952	chr3:89406711-89406712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539879197	chr3:89406726-89406727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79649840	chr3:89406753-89406754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113561883	chr3:89406777-89406778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537554251	chr3:89406811-89406812	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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