Variant report

Variant	esv3363296
Chromosome Location	chr3:150553112-150556810
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	chr3:150479805..150481364-chr3:150556463..150558092,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181788	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527951596	chr3:150553136-150553137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11714948	chr3:150553170-150553171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555256841	chr3:150553177-150553178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192195893	chr3:150553180-150553181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533068873	chr3:150553190-150553191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183734326	chr3:150553223-150553224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564201820	chr3:150553311-150553312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187806860	chr3:150553328-150553329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189547010	chr3:150553340-150553341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549290788	chr3:150553360-150553361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs137933094	chr3:150553375-150553376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534874456	chr3:150553384-150553385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4679986	chr3:150553413-150553414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570505077	chr3:150553414-150553415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539593522	chr3:150553425-150553426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556219701	chr3:150553468-150553469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576264414	chr3:150553475-150553476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542073601	chr3:150553501-150553502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182207111	chr3:150553532-150553533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563479725	chr3:150553611-150553612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59665279	chr3:150553618-150553619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200503291	chr3:150553630-150553631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs67117841	chr3:150553650-150553651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56188230	chr3:150553652-150553653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572653468	chr3:150553671-150553672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541668809	chr3:150553675-150553676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186995570	chr3:150553712-150553713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566033633	chr3:150553728-150553729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571846022	chr3:150553730-150553731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76595977	chr3:150553741-150553742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201615498	chr3:150553743-150553744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149453008	chr3:150553788-150553789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143008589	chr3:150553818-150553819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192789213	chr3:150553827-150553828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528946606	chr3:150553833-150553834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542317562	chr3:150553858-150553859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571187178	chr3:150553881-150553882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185230801	chr3:150553882-150553883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369636099	chr3:150553954-150553955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372872636	chr3:150553966-150553967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377127711	chr3:150553973-150553974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148278376	chr3:150553974-150553975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141298549	chr3:150554019-150554020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539433832	chr3:150554023-150554024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556105247	chr3:150554033-150554034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112778229	chr3:150554066-150554067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193179318	chr3:150554091-150554092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146245905	chr3:150554094-150554095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572589763	chr3:150554105-150554106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372974576	chr3:150554215-150554216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
head and neck squamous cell carcinoma	17671120	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
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150550600-150556200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:150556200-150556800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:150556400-150556600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr3:150556400-150556600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:150556600-150556800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr3:150556800-150558400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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