Variant report

Variant	esv1850560
Chromosome Location	chr3:99920884-99924774
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	chr11:2052488..2053195-chr3:99924648..99925466,2	MCF-7	breast:
2	chr2:201727914..201730081-chr3:99923240..99926220,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252759	chromatin interactions
ENSG00000013441	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 54 )

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	rs11719857	chr3:99920884-99920885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186586658	chr3:99920888-99920889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11707768	chr3:99920920-99920921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191887485	chr3:99920928-99920929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374995081	chr3:99920933-99920934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140174559	chr3:99920934-99920935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574735478	chr3:99920941-99920942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181178423	chr3:99921050-99921051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569144836	chr3:99921070-99921071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142937838	chr3:99921097-99921098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74642383	chr3:99921099-99921100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151088750	chr3:99921162-99921163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534139370	chr3:99921291-99921292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111896294	chr3:99921294-99921295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574280042	chr3:99921319-99921320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566225338	chr3:99921336-99921337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149800487	chr3:99921344-99921345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556958557	chr3:99921568-99921569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533342779	chr3:99921576-99921577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116342822	chr3:99921601-99921602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2178397	chr3:99921609-99921610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545946029	chr3:99921690-99921691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554663137	chr3:99921695-99921696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145735530	chr3:99921760-99921761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140530834	chr3:99921763-99921764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145619182	chr3:99921765-99921766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371119119	chr3:99921776-99921777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529224458	chr3:99921803-99921804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550594403	chr3:99921804-99921805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199855448	chr3:99921810-99921811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186623620	chr3:99921812-99921813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2029163	chr3:99921816-99921817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs559058095	chr3:99921861-99921862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566432092	chr3:99921870-99921871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112600995	chr3:99921871-99921872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533984750	chr3:99921878-99921879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12696064	chr3:99921885-99921886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs375206399	chr3:99921898-99921899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191325571	chr3:99921899-99921900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560432542	chr3:99921910-99921911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527582121	chr3:99921935-99921936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182124350	chr3:99921957-99921958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113465458	chr3:99921972-99921973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112240960	chr3:99921999-99922000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572982180	chr3:99922002-99922003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185251047	chr3:99922011-99922012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79498303	chr3:99922052-99922053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561962823	chr3:99922073-99922074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117590547	chr3:99922107-99922108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376965776	chr3:99922120-99922121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99917600-99928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:99917800-99933000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:99920600-99922800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:99922800-99923000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr3:99923000-99928000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:99924000-99924400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:99924200-99924800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:99924400-99928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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