Variant report

Variant	nsv590951
Chromosome Location	chr3:89410319-89422139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 499 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1398196	chr3:89410319-89410320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532336451	chr3:89410343-89410344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76593752	chr3:89410395-89410396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562820721	chr3:89410437-89410438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529936693	chr3:89410470-89410471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548076153	chr3:89410474-89410475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560444870	chr3:89410478-89410479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183050334	chr3:89410505-89410506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527594251	chr3:89410516-89410517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541947026	chr3:89410544-89410545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570479323	chr3:89410585-89410586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537817939	chr3:89410614-89410615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549935134	chr3:89410664-89410665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73846155	chr3:89410673-89410674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145225972	chr3:89410697-89410698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371789668	chr3:89410718-89410719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528606585	chr3:89410831-89410832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114955486	chr3:89410846-89410847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554865565	chr3:89410893-89410894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150942190	chr3:89410904-89410905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370368336	chr3:89410924-89410925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540810431	chr3:89410951-89410952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187675896	chr3:89410982-89410983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192887844	chr3:89410983-89410984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576857386	chr3:89410987-89410988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544186853	chr3:89410997-89410998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140775657	chr3:89411035-89411036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184992682	chr3:89411045-89411046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574836998	chr3:89411048-89411049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150115873	chr3:89411104-89411105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560098590	chr3:89411108-89411109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527450440	chr3:89411132-89411133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552522803	chr3:89411207-89411208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138251211	chr3:89411215-89411216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531374044	chr3:89411259-89411260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550959327	chr3:89411275-89411276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187868095	chr3:89411286-89411287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77127910	chr3:89411294-89411295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547432619	chr3:89411315-89411316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566971918	chr3:89411323-89411324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145544942	chr3:89411328-89411329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144010910	chr3:89411356-89411357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530498471	chr3:89411373-89411374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558860039	chr3:89411404-89411405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146897029	chr3:89411411-89411412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537897667	chr3:89411484-89411485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139330975	chr3:89411504-89411505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556286812	chr3:89411547-89411548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74646544	chr3:89411610-89411611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78268844	chr3:89411632-89411633	Weak transcription Enhancers	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:44 , 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	chr3:89409400-89410600	Weak transcription	Fetal Lung	lung
4	chr3:89410200-89410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:89410200-89410400	Enhancers	Fetal Brain Female	brain
6	chr3:89410400-89412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:89410400-89421200	Weak transcription	Fetal Brain Female	brain
8	chr3:89410600-89414000	Enhancers	Fetal Lung	lung
9	chr3:89411600-89411800	Enhancers	Fetal Muscle Leg	muscle
10	chr3:89411800-89412600	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:89412600-89413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:89412600-89413400	Enhancers	Fetal Muscle Leg	muscle
13	chr3:89413200-89413600	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:89413400-89413800	Enhancers	Ovary	ovary
15	chr3:89413400-89415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:89414000-89418000	Weak transcription	Fetal Lung	lung
17	chr3:89415800-89417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:89417200-89417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:89417200-89418000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:89417400-89417800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:89417600-89417800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:89417600-89418000	ZNF genes & repeats	Brain Germinal Matrix	brain
23	chr3:89417800-89433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:89418000-89418200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:89418000-89421000	Weak transcription	Brain Germinal Matrix	brain
26	chr3:89420800-89422800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:89421000-89421600	Enhancers	Brain Germinal Matrix	brain
28	chr3:89421000-89422800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:89421200-89421600	Enhancers	Fetal Brain Female	brain
30	chr3:89421200-89421600	Enhancers	NH-A	brain
31	chr3:89421200-89421800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:89421200-89422400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:89421400-89421800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:89421400-89421800	Enhancers	Osteobl	bone
35	chr3:89421400-89422200	Enhancers	NHDF-Ad	bronchial
36	chr3:89421400-89422400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:89421600-89422000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:89421600-89422000	Weak transcription	Brain Germinal Matrix	brain
39	chr3:89421600-89422200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:89421600-89423600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:89421800-89422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:89421800-89422600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:89422000-89422200	Enhancers	Brain Germinal Matrix	brain
44	chr3:89422000-89428400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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