Variant report

Variant	esv3380006
Chromosome Location	chr3:163763758-163767456
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	chr3:163759624..163761925-chr3:163765313..163767072,2	MCF-7	breast:

Extended variants
information (count: 144 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5854076	chr3:163763761-163763762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148302901	chr3:163763809-163763810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372247878	chr3:163763823-163763824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549746423	chr3:163763845-163763846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11916174	chr3:163763853-163763854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538695527	chr3:163763871-163763872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2034623	chr3:163763929-163763930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572240082	chr3:163763930-163763931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534830152	chr3:163763932-163763933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554841686	chr3:163763968-163763969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574655860	chr3:163763974-163763975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12486898	chr3:163763975-163763976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370664331	chr3:163764066-163764067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545205937	chr3:163764070-163764071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73022531	chr3:163764223-163764224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576370504	chr3:163764228-163764229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545053225	chr3:163764240-163764241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78281798	chr3:163764320-163764321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142999493	chr3:163764321-163764322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575895900	chr3:163764333-163764334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541203640	chr3:163764402-163764403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7624158	chr3:163764416-163764417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530408796	chr3:163764420-163764421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146126482	chr3:163764427-163764428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371390142	chr3:163764436-163764437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569584591	chr3:163764447-163764448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532163680	chr3:163764478-163764479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552270653	chr3:163764488-163764489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9818887	chr3:163764505-163764506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111521771	chr3:163764526-163764527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373007683	chr3:163764580-163764581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66608023	chr3:163764602-163764603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200916183	chr3:163764606-163764607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113637977	chr3:163764612-163764613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534738607	chr3:163764706-163764707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181722472	chr3:163764713-163764714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374803278	chr3:163764742-163764743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568203897	chr3:163764756-163764757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537311948	chr3:163764764-163764765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185917017	chr3:163764832-163764833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576000362	chr3:163764849-163764850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367663094	chr3:163764937-163764938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558556693	chr3:163765014-163765015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138991994	chr3:163765021-163765022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78527715	chr3:163765037-163765038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561490692	chr3:163765042-163765043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530232167	chr3:163765045-163765046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530136388	chr3:163765078-163765079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544062395	chr3:163765081-163765082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563840452	chr3:163765085-163765086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163758400-163771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163763800-163764000	Enhancers	Placenta	Placenta
3	chr3:163764000-163768000	Weak transcription	Placenta	Placenta
4	chr3:163765800-163766000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:163766000-163766200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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