Variant report

Variant	esv2763730
Chromosome Location	chr3:89667174-89678599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 338 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558379045	chr3:89667175-89667176	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs371576399	chr3:89667179-89667180	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs570046334	chr3:89667223-89667224	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs186891608	chr3:89667265-89667266	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs561772269	chr3:89667404-89667405	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs146494659	chr3:89667407-89667408	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs191258120	chr3:89667434-89667435	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs76876073	chr3:89667495-89667496	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs553777002	chr3:89667503-89667504	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs79794285	chr3:89667551-89667552	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs577915775	chr3:89667553-89667554	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs373872539	chr3:89667570-89667571	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs544867285	chr3:89667594-89667595	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs368331347	chr3:89667627-89667628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367773262	chr3:89667640-89667641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544432352	chr3:89667645-89667646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563530961	chr3:89667691-89667692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530499642	chr3:89667738-89667739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542714645	chr3:89667843-89667844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140842390	chr3:89667854-89667855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150158148	chr3:89667894-89667895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182581626	chr3:89667904-89667905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559795670	chr3:89667950-89667951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186811418	chr3:89667990-89667991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562771152	chr3:89668033-89668034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191273142	chr3:89668076-89668077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551668537	chr3:89668189-89668190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570260812	chr3:89668230-89668231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182266756	chr3:89668233-89668234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138650402	chr3:89668377-89668378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188967490	chr3:89668378-89668379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534653318	chr3:89668398-89668399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552990199	chr3:89668452-89668453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193232203	chr3:89668510-89668511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148811527	chr3:89668546-89668547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146941571	chr3:89668547-89668548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575359063	chr3:89668590-89668591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185307796	chr3:89668636-89668637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560915891	chr3:89668669-89668670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73847667	chr3:89668685-89668686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs75900895	chr3:89668776-89668777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549018041	chr3:89668778-89668779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536026417	chr3:89668845-89668846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552024403	chr3:89668848-89668849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563844427	chr3:89668915-89668916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530969008	chr3:89669013-89669014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549169207	chr3:89669025-89669026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7630160	chr3:89669043-89669044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534825309	chr3:89669072-89669073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546654792	chr3:89669075-89669076	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89665200-89674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:89666800-89667200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:89666800-89667600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:89666800-89667600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:89666800-89667600	Bivalent Enhancer	Fetal Heart	heart
6	chr3:89666800-89667600	Enhancers	HMEC	breast
7	chr3:89667000-89667200	Enhancers	Ovary	ovary
8	chr3:89667000-89667400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:89673600-89673800	Enhancers	HepG2	liver
10	chr3:89674000-89675000	Weak transcription	HepG2	liver
11	chr3:89674600-89675200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:89675000-89675400	Enhancers	HepG2	liver
13	chr3:89675200-89675600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:89675600-89675800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:89677600-89679000	Enhancers	Fetal Heart	heart
16	chr3:89678200-89678800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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