Variant report

Variant	esv3346618
Chromosome Location	chr3:146157562-146161260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:146158561..146161277-chr3:146161473..146163225,2	K562	blood:
2	chr3:146155934..146158732-chr3:146162320..146163882,2	MCF-7	breast:
3	chr3:146158889..146161569-chr3:146161974..146164517,2	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146587161	chr3:146157562-146157563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555916164	chr3:146157563-146157564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574156623	chr3:146157579-146157580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541518284	chr3:146157597-146157598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141179705	chr3:146157602-146157603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111876483	chr3:146157621-146157622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138996040	chr3:146157670-146157671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545023151	chr3:146157680-146157681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6774338	chr3:146157689-146157690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143845038	chr3:146157690-146157691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193039165	chr3:146157713-146157714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184804262	chr3:146157715-146157716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528205311	chr3:146157718-146157719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189665244	chr3:146157724-146157725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564772629	chr3:146157731-146157732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375414888	chr3:146157734-146157735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12489924	chr3:146157796-146157797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112934061	chr3:146157806-146157807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537666060	chr3:146157812-146157813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549629495	chr3:146157850-146157851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112385699	chr3:146157855-146157856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535168035	chr3:146157886-146157887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372121209	chr3:146157897-146157898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548743228	chr3:146157999-146158000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577962518	chr3:146158006-146158007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538983423	chr3:146158073-146158074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556996439	chr3:146158078-146158079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575187861	chr3:146158132-146158133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542496121	chr3:146158186-146158187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150314769	chr3:146158230-146158231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35783134	chr3:146158239-146158240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539953670	chr3:146158249-146158250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375476123	chr3:146158254-146158255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369318341	chr3:146158256-146158257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57028178	chr3:146158259-146158260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532024103	chr3:146158284-146158285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12487319	chr3:146158330-146158331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114350796	chr3:146158364-146158365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531268198	chr3:146158388-146158389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34740686	chr3:146158395-146158396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567906427	chr3:146158400-146158401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181266189	chr3:146158422-146158423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4681324	chr3:146158463-146158464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185218863	chr3:146158473-146158474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34148123	chr3:146158493-146158494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77893325	chr3:146158520-146158521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556970501	chr3:146158534-146158535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67900392	chr3:146158557-146158558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188083186	chr3:146158559-146158560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536191843	chr3:146158575-146158576	Weak transcription	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146135600-146160400	Weak transcription	Pancreas	Pancrea

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