Variant report

Variant	esv3334587
Chromosome Location	chr11:47033726-47035774
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	chr11:47025033..47028147-chr11:47030692..47034126,5	K562	blood:
2	chr11:47026518..47028545-chr11:47034520..47036509,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536229565	chr11:47033789-47033790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552994665	chr11:47033836-47033837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572992992	chr11:47033858-47033859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192262519	chr11:47033946-47033947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11039065	chr11:47033959-47033960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183683748	chr11:47033987-47033988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150100109	chr11:47034079-47034080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187525510	chr11:47034082-47034083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111452393	chr11:47034095-47034096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543669398	chr11:47034122-47034123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563421522	chr11:47034198-47034199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545527317	chr11:47034216-47034217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573909443	chr11:47034231-47034232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138376123	chr11:47034234-47034235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190528279	chr11:47034280-47034281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182735565	chr11:47034313-47034314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528143767	chr11:47034348-47034349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551520297	chr11:47034388-47034389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556646804	chr11:47034494-47034495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565443592	chr11:47034524-47034525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187078151	chr11:47034534-47034535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199970340	chr11:47034546-47034547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114268775	chr11:47034551-47034552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5791751	chr11:47034557-47034558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34615623	chr11:47034558-47034559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202243125	chr11:47034570-47034571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192507938	chr11:47034582-47034583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531914517	chr11:47034604-47034605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113699014	chr11:47034615-47034616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527337005	chr11:47034620-47034621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373902806	chr11:47034667-47034668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536994910	chr11:47034709-47034710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546549918	chr11:47034728-47034729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566531307	chr11:47034758-47034759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12790174	chr11:47034762-47034763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538719292	chr11:47034772-47034773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184431770	chr11:47034820-47034821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537607548	chr11:47034826-47034827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536826153	chr11:47034872-47034873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554730446	chr11:47034976-47034977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557170135	chr11:47035003-47035004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573811425	chr11:47035013-47035014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542945381	chr11:47035105-47035106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552973098	chr11:47035106-47035107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572889241	chr11:47035248-47035249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545056022	chr11:47035368-47035369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187459102	chr11:47035408-47035409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574669601	chr11:47035434-47035435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10769230	chr11:47035573-47035574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs143485384	chr11:47035680-47035681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47026000-47035600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:47026600-47036800	Weak transcription	Primary B cells from cord blood	blood
3	chr11:47026600-47042200	Weak transcription	Small Intestine	intestine
4	chr11:47026800-47041000	Weak transcription	Hela-S3	cervix
5	chr11:47026800-47080200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:47027000-47040000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:47027200-47034600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:47027200-47042000	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:47027400-47039600	Weak transcription	Osteobl	bone
10	chr11:47027400-47056000	Weak transcription	Fetal Intestine Small	intestine
11	chr11:47027800-47048000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:47033000-47042000	Weak transcription	Fetal Lung	lung
13	chr11:47033800-47034400	Enhancers	HepG2	liver
14	chr11:47034400-47037000	Weak transcription	HepG2	liver
15	chr11:47035600-47036200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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