Variant report

Variant	esv3444024
Chromosome Location	chr3:110288612-110293210
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	chr3:110282414..110285256-chr3:110286686..110288676,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576677826	chr3:110288632-110288633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545552911	chr3:110288635-110288636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180824113	chr3:110288713-110288714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186007272	chr3:110288714-110288715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540721551	chr3:110288762-110288763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190511254	chr3:110288768-110288769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529595944	chr3:110288814-110288815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200368074	chr3:110288819-110288820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563565475	chr3:110288822-110288823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11346838	chr3:110288828-110288829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200249936	chr3:110288830-110288831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56314132	chr3:110288831-110288832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56280757	chr3:110288832-110288833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200276008	chr3:110288834-110288835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202033869	chr3:110288835-110288836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34344583	chr3:110288836-110288837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182150333	chr3:110288840-110288841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528341557	chr3:110288862-110288863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547862364	chr3:110288866-110288867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567767361	chr3:110288896-110288897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185716329	chr3:110288900-110288901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556303063	chr3:110288912-110288913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35518704	chr3:110288928-110288929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570062436	chr3:110288943-110288944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7648338	chr3:110288961-110288962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558866356	chr3:110288972-110288973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572304718	chr3:110288986-110288987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7626511	chr3:110289017-110289018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7626514	chr3:110289028-110289029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558012699	chr3:110289070-110289071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7626602	chr3:110289094-110289095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543379785	chr3:110289103-110289104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563120945	chr3:110289106-110289107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532173068	chr3:110289191-110289192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142009269	chr3:110289205-110289206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374955070	chr3:110289248-110289249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76183742	chr3:110289275-110289276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528253152	chr3:110289326-110289327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548417886	chr3:110289363-110289364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7648726	chr3:110289375-110289376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530113455	chr3:110289421-110289422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543701291	chr3:110289434-110289435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545781268	chr3:110289435-110289436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550286220	chr3:110289454-110289455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541954295	chr3:110289499-110289500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115129893	chr3:110289529-110289530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555902872	chr3:110289613-110289614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372814867	chr3:110289630-110289631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139900171	chr3:110289655-110289656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61302912	chr3:110289659-110289660	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110287600-110295400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:110287800-110289400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:110288200-110294400	Weak transcription	NHDF-Ad	bronchial
4	chr3:110288200-110294600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:110289400-110290400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:110290400-110295400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:110293000-110293400	Enhancers	Dnd41	blood

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