Variant report

Variant	esv3431022
Chromosome Location	chr3:88626337-88628535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6803194	chr3:88626350-88626351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550830084	chr3:88626361-88626362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562307840	chr3:88626390-88626391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139880392	chr3:88626420-88626421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112235938	chr3:88626427-88626428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532983440	chr3:88626470-88626471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73845358	chr3:88626472-88626473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149412184	chr3:88626493-88626494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534835357	chr3:88626529-88626530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553111332	chr3:88626553-88626554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146389947	chr3:88626630-88626631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186709163	chr3:88626659-88626660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368112515	chr3:88626663-88626664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139768544	chr3:88626771-88626772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575955060	chr3:88626776-88626777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114348892	chr3:88626788-88626789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555159101	chr3:88626834-88626835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113239257	chr3:88626869-88626870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7431766	chr3:88626877-88626878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566663905	chr3:88626905-88626906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60574566	chr3:88626934-88626935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs372840371	chr3:88626949-88626950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188201693	chr3:88626951-88626952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576758335	chr3:88626964-88626965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61176217	chr3:88627002-88627003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7433588	chr3:88627018-88627019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529893325	chr3:88627039-88627040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547993220	chr3:88627070-88627071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559884304	chr3:88627081-88627082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181065363	chr3:88627127-88627128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528603163	chr3:88627132-88627133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202193612	chr3:88627140-88627141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547053834	chr3:88627151-88627152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368089732	chr3:88627157-88627158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200781125	chr3:88627158-88627159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566958513	chr3:88627160-88627161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397990490	chr3:88627188-88627189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58435001	chr3:88627189-88627190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548291710	chr3:88627217-88627218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10575626	chr3:88627245-88627246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58746814	chr3:88627246-88627247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13325230	chr3:88627254-88627255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571589771	chr3:88627274-88627275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372052342	chr3:88627315-88627316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371693869	chr3:88627361-88627362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374821297	chr3:88627362-88627363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368966169	chr3:88627367-88627368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372385435	chr3:88627370-88627371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375472100	chr3:88627371-88627372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58716157	chr3:88627394-88627395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88622400-88627800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:88623800-88627800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:88627800-88628200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:88627800-88628200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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