Variant report

Variant	esv3462645
Chromosome Location	chr3:146427478-146428285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191689262	chr3:146427489-146427490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567199325	chr3:146427505-146427506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140287000	chr3:146427531-146427532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552817381	chr3:146427573-146427574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566629794	chr3:146427577-146427578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184373272	chr3:146427580-146427581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372096071	chr3:146427583-146427584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548107611	chr3:146427585-146427586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533602423	chr3:146427593-146427594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575181380	chr3:146427624-146427625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544145993	chr3:146427657-146427658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150362307	chr3:146427673-146427674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138298506	chr3:146427676-146427677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371423715	chr3:146427692-146427693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142890421	chr3:146427712-146427713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540701135	chr3:146427716-146427717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148184201	chr3:146427737-146427738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558228040	chr3:146427757-146427758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114482425	chr3:146427768-146427769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73160977	chr3:146427796-146427797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563130253	chr3:146427857-146427858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74998863	chr3:146427866-146427867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530978514	chr3:146427933-146427934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567241471	chr3:146427934-146427935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77156334	chr3:146427946-146427947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566451980	chr3:146427960-146427961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570879040	chr3:146428025-146428026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144954116	chr3:146428030-146428031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201898961	chr3:146428076-146428077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114677115	chr3:146428103-146428104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558326338	chr3:146428115-146428116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115484235	chr3:146428128-146428129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3898229	chr3:146428139-146428140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187724554	chr3:146428145-146428146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550162907	chr3:146428147-146428148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151288675	chr3:146428159-146428160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554596292	chr3:146428174-146428175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536131416	chr3:146428217-146428218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377675411	chr3:146428233-146428234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192287575	chr3:146428256-146428257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73160978	chr3:146428258-146428259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533956538	chr3:146428283-146428284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185878523	chr3:146428284-146428285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146420200-146432400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:146426600-146427600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:146426600-146427600	Enhancers	Dnd41	blood
4	chr3:146427000-146427600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:146427200-146427800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:146427200-146427800	Enhancers	HSMM	muscle
7	chr3:146427200-146428000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:146427200-146428600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:146427400-146427600	Enhancers	NHDF-Ad	bronchial
10	chr3:146427600-146430000	Weak transcription	NHDF-Ad	bronchial
11	chr3:146427800-146432800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links