Variant report

Variant	esv3404948
Chromosome Location	chr3:134104912-134106010
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	chr3:134104354..134106982-chr3:134107701..134111001,3	MCF-7	breast:
2	chr16:79931098..79932051-chr3:134105897..134106490,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541310708	chr3:134104926-134104927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183791378	chr3:134104936-134104937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6780550	chr3:134104964-134104965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116386722	chr3:134104973-134104974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575010419	chr3:134105017-134105018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370241424	chr3:134105044-134105045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57913421	chr3:134105049-134105050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75030938	chr3:134105052-134105053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531336838	chr3:134105087-134105088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551440843	chr3:134105110-134105111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571256098	chr3:134105190-134105191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527621439	chr3:134105226-134105227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71139532	chr3:134105265-134105266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199811131	chr3:134105278-134105279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200909962	chr3:134105281-134105282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377679897	chr3:134105283-134105284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201767475	chr3:134105286-134105287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55726309	chr3:134105289-134105290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56091520	chr3:134105302-134105303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377658816	chr3:134105304-134105305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373895714	chr3:134105307-134105308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56390240	chr3:134105309-134105310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199986643	chr3:134105311-134105312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371052964	chr3:134105316-134105317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375518898	chr3:134105317-134105318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370248269	chr3:134105321-134105322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76709614	chr3:134105333-134105334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535671375	chr3:134105345-134105346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77000267	chr3:134105434-134105435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556629544	chr3:134105445-134105446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78616752	chr3:134105566-134105567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538743926	chr3:134105660-134105661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558562716	chr3:134105662-134105663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373838303	chr3:134105740-134105741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572085966	chr3:134105759-134105760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541347719	chr3:134105764-134105765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554929264	chr3:134105771-134105772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574984583	chr3:134105784-134105785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543602797	chr3:134105791-134105792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563902156	chr3:134105812-134105813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555347639	chr3:134105818-134105819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151103962	chr3:134105834-134105835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564903813	chr3:134105882-134105883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78296346	chr3:134105892-134105893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563556427	chr3:134105944-134105945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541367969	chr3:134105946-134105947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367865435	chr3:134105949-134105950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140942471	chr3:134105964-134105965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144954183	chr3:134105981-134105982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11718883	chr3:134105985-134105986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:51)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134098000-134107200	Weak transcription	Lung	lung
2	chr3:134098000-134111200	Weak transcription	Right Atrium	heart
3	chr3:134101200-134106200	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:134101200-134108000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:134101400-134106600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:134101400-134107400	Weak transcription	Fetal Lung	lung
7	chr3:134101400-134111600	Weak transcription	Pancreas	Pancrea
8	chr3:134102000-134107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:134102000-134111600	Weak transcription	Esophagus	oesophagus
10	chr3:134104200-134108000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:134104200-134108000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:134104800-134108000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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