Variant report

Variant	esv3385531
Chromosome Location	chr3:145608862-145612960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74884074	chr3:145608866-145608867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77664944	chr3:145608871-145608872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149738213	chr3:145608873-145608874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79162474	chr3:145608877-145608878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75764698	chr3:145608880-145608881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535920380	chr3:145608924-145608925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1910313	chr3:145608931-145608932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572764258	chr3:145608987-145608988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568844487	chr3:145609115-145609116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553584685	chr3:145609152-145609153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374352201	chr3:145609182-145609183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368609864	chr3:145609183-145609184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397873959	chr3:145609188-145609189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200817572	chr3:145609235-145609236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34149971	chr3:145609236-145609237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6800322	chr3:145609237-145609238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563858026	chr3:145609251-145609252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6440398	chr3:145609308-145609309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543071363	chr3:145609321-145609322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561232999	chr3:145609331-145609332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148504752	chr3:145609332-145609333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187332728	chr3:145609358-145609359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13073973	chr3:145609366-145609367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191739866	chr3:145609376-145609377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550489285	chr3:145609423-145609424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181743627	chr3:145609427-145609428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142893557	chr3:145609429-145609430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1355789	chr3:145609432-145609433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6800363	chr3:145609442-145609443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1910312	chr3:145609453-145609454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113733375	chr3:145609468-145609469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185676139	chr3:145609471-145609472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374482124	chr3:145609503-145609504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371623534	chr3:145609547-145609548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545697175	chr3:145609548-145609549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147693340	chr3:145609621-145609622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190091094	chr3:145609684-145609685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182699395	chr3:145609721-145609722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542853105	chr3:145609735-145609736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73162672	chr3:145609739-145609740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560822240	chr3:145609903-145609904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370620808	chr3:145609904-145609905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1513398	chr3:145609922-145609923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543033963	chr3:145609950-145609951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564914245	chr3:145609956-145609957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187766752	chr3:145609979-145609980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550427524	chr3:145609986-145609987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11365638	chr3:145610056-145610057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398091875	chr3:145610057-145610058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562452125	chr3:145610071-145610072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145607800-145610600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:145608000-145615800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:145608200-145609000	Enhancers	Dnd41	blood
4	chr3:145608200-145614200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:145610400-145611400	Enhancers	HepG2	liver
6	chr3:145610600-145611000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:145610600-145611200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:145610600-145611200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:145611000-145611200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:145611000-145613400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:145611200-145616000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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