Variant report

Variant	nsv590953
Chromosome Location	chr3:89656475-89677834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 535 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:535 , 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	rs540355309	chr3:89662409-89662410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535823885	chr3:89662424-89662425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138133967	chr3:89662427-89662428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181068532	chr3:89662441-89662442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373220042	chr3:89662454-89662455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569358712	chr3:89662455-89662456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550558491	chr3:89662468-89662469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142351826	chr3:89662469-89662470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377314230	chr3:89662508-89662509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549300638	chr3:89662520-89662521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567549007	chr3:89662524-89662525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569392495	chr3:89662552-89662553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150521048	chr3:89662593-89662594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553016810	chr3:89662604-89662605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542695778	chr3:89662627-89662628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146328213	chr3:89662717-89662718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139508591	chr3:89662732-89662733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73847666	chr3:89662765-89662766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557374360	chr3:89662781-89662782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184996666	chr3:89662801-89662802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190953056	chr3:89662832-89662833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554443122	chr3:89662871-89662872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183143504	chr3:89662897-89662898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144507781	chr3:89662929-89662930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187369567	chr3:89662936-89662937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577015296	chr3:89662961-89662962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543859872	chr3:89663033-89663034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73153228	chr3:89663040-89663041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55687413	chr3:89663045-89663046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562544192	chr3:89663064-89663065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531095964	chr3:89663102-89663103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140885856	chr3:89663110-89663111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561262477	chr3:89663129-89663130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144832024	chr3:89663140-89663141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546794651	chr3:89663166-89663167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191414326	chr3:89663175-89663176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531690134	chr3:89663189-89663190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78122213	chr3:89663219-89663220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550687560	chr3:89663246-89663247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569259505	chr3:89663252-89663253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370874169	chr3:89663298-89663299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112745594	chr3:89663322-89663323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199619549	chr3:89663328-89663329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368215547	chr3:89663341-89663342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112131122	chr3:89663349-89663350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554868156	chr3:89663354-89663355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573181672	chr3:89663425-89663426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147955947	chr3:89663428-89663429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140234019	chr3:89663437-89663438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183613905	chr3:89663455-89663456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Soft tissue tumor	16732325	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
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89662400-89662600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr3:89662400-89662800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:89662400-89662800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:89662400-89662800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:89662400-89662800	Enhancers	Ovary	ovary
6	chr3:89662400-89663800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:89662800-89663600	Weak transcription	Ovary	ovary
8	chr3:89663600-89663800	Enhancers	Ovary	ovary
9	chr3:89663800-89664800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:89663800-89666800	Weak transcription	Ovary	ovary
11	chr3:89664800-89665200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:89665200-89674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:89666800-89667200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:89666800-89667600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:89666800-89667600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:89666800-89667600	Bivalent Enhancer	Fetal Heart	heart
17	chr3:89666800-89667600	Enhancers	HMEC	breast
18	chr3:89667000-89667200	Enhancers	Ovary	ovary
19	chr3:89667000-89667400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:89673600-89673800	Enhancers	HepG2	liver
21	chr3:89674000-89675000	Weak transcription	HepG2	liver
22	chr3:89674600-89675200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:89675000-89675400	Enhancers	HepG2	liver
24	chr3:89675200-89675600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:89675600-89675800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:89677600-89679000	Enhancers	Fetal Heart	heart

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