Variant report

Variant	esv3417440
Chromosome Location	chr3:134419312-134421360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134396336..134397912-chr3:134418213..134420417,2	MCF-7	breast:
2	chr3:134412754..134415691-chr3:134416793..134419769,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563690627	chr3:134419332-134419333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369917831	chr3:134419342-134419343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537708741	chr3:134419386-134419387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557274134	chr3:134419425-134419426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6807467	chr3:134419437-134419438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114574524	chr3:134419449-134419450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147799766	chr3:134419467-134419468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558667202	chr3:134419471-134419472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572096590	chr3:134419525-134419526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541022799	chr3:134419551-134419552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371143935	chr3:134419589-134419590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561209751	chr3:134419620-134419621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545660355	chr3:134419674-134419675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530027142	chr3:134419688-134419689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191465695	chr3:134419716-134419717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182368251	chr3:134419721-134419722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532299672	chr3:134419751-134419752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187959011	chr3:134419759-134419760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565815462	chr3:134419827-134419828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202036982	chr3:134419873-134419874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114321823	chr3:134419885-134419886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549830199	chr3:134419953-134419954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568036469	chr3:134419963-134419964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79070867	chr3:134420003-134420004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139507442	chr3:134420033-134420034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201875616	chr3:134420034-134420035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537365979	chr3:134420043-134420044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557597174	chr3:134420049-134420050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570988762	chr3:134420050-134420051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10598742	chr3:134420057-134420058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376820548	chr3:134420058-134420059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13092866	chr3:134420062-134420063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13072341	chr3:134420079-134420080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145808012	chr3:134420081-134420082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13092550	chr3:134420085-134420086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13072352	chr3:134420091-134420092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13092558	chr3:134420101-134420102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13072366	chr3:134420107-134420108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13072368	chr3:134420113-134420114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376065353	chr3:134420120-134420121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572159577	chr3:134420144-134420145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202183342	chr3:134420148-134420149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62271046	chr3:134420154-134420155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371290693	chr3:134420156-134420157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77333051	chr3:134420159-134420160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374142250	chr3:134420167-134420168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376085351	chr3:134420168-134420169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9876476	chr3:134420179-134420180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368453840	chr3:134420190-134420191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373285128	chr3:134420191-134420192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134411600-134420600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:134418400-134428000	Weak transcription	Right Atrium	heart
3	chr3:134418600-134428800	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:134419000-134423000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:134419000-134423400	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:134419200-134419600	Weak transcription	Esophagus	oesophagus
7	chr3:134419200-134419600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:134419200-134419800	Enhancers	Stomach Smooth Muscle	stomach
9	chr3:134419600-134419800	Enhancers	Esophagus	oesophagus
10	chr3:134419600-134419800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:134419800-134427600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:134419800-134432200	Weak transcription	Esophagus	oesophagus
13	chr3:134420600-134423400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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