Variant report

Variant	esv3331081
Chromosome Location	chr3:89479262-89483260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181451239	chr3:89479270-89479271	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371835315	chr3:89479281-89479282	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537189179	chr3:89479293-89479294	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558429519	chr3:89479339-89479340	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570269591	chr3:89479340-89479341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140248536	chr3:89479391-89479392	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185493234	chr3:89479462-89479463	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370299331	chr3:89479495-89479496	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115198457	chr3:89479505-89479506	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541577341	chr3:89479605-89479606	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199522348	chr3:89479637-89479638	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553700902	chr3:89479690-89479691	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540877487	chr3:89479710-89479711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571950542	chr3:89479750-89479751	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199712227	chr3:89479767-89479768	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114502592	chr3:89479788-89479789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556087960	chr3:89479817-89479818	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116723031	chr3:89479854-89479855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544796204	chr3:89479990-89479991	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562974557	chr3:89479995-89479996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544925224	chr3:89480001-89480002	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145264488	chr3:89480033-89480034	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548413008	chr3:89480139-89480140	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560448676	chr3:89480156-89480157	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527685358	chr3:89480182-89480183	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34635864	chr3:89480214-89480215	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12639506	chr3:89480265-89480266	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs530442459	chr3:89480277-89480278	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570394100	chr3:89480288-89480289	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199630398	chr3:89480301-89480302	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200791821	chr3:89480321-89480322	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568185407	chr3:89480322-89480323	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375846678	chr3:89480330-89480331	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369276620	chr3:89480396-89480397	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149696182	chr3:89480400-89480401	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56175540	chr3:89480407-89480408	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146856660	chr3:89480438-89480439	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34437982	chr3:89480493-89480494	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199809489	chr3:89480521-89480522	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539437119	chr3:89480537-89480538	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374246190	chr3:89480538-89480539	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368181600	chr3:89480559-89480560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563235463	chr3:89480592-89480593	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577595562	chr3:89480618-89480619	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544935591	chr3:89480663-89480664	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563068278	chr3:89480665-89480666	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371755418	chr3:89480733-89480734	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574935285	chr3:89480786-89480787	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542265441	chr3:89480860-89480861	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371153582	chr3:89480923-89480924	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Obesity	21131291	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89460800-89521200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:89469400-89483400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:89478400-89482400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:89482400-89483000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:89482600-89482800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:89482600-89483600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:89482800-89483600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:89483000-89484200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:89483000-89484400	Enhancers	Cortex derived primary cultured neurospheres	brain

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