Variant report

Variant	esv1838619
Chromosome Location	chr11:24440965-24453054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7924982	chr11:24440965-24440966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567375508	chr11:24440993-24440994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536309339	chr11:24440995-24440996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145398268	chr11:24441030-24441031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553091753	chr11:24441040-24441041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572596397	chr11:24441075-24441076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535196813	chr11:24441102-24441103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146590354	chr11:24441145-24441146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190440098	chr11:24441163-24441164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543433945	chr11:24441166-24441167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559616904	chr11:24441191-24441192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78397404	chr11:24441274-24441275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573689715	chr11:24441278-24441279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542760230	chr11:24441279-24441280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151228605	chr11:24441284-24441285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10625646	chr11:24441285-24441286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397792788	chr11:24441290-24441291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372951770	chr11:24441291-24441292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375982258	chr11:24441294-24441295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372149589	chr11:24441296-24441297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369152134	chr11:24441333-24441334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561929594	chr11:24441352-24441353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377158114	chr11:24441399-24441400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371089909	chr11:24441401-24441402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180847190	chr11:24441416-24441417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529460021	chr11:24441424-24441425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551521667	chr11:24441463-24441464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535964026	chr11:24441477-24441478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565057540	chr11:24441484-24441485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140072377	chr11:24441487-24441488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550601081	chr11:24441562-24441563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116679845	chr11:24441565-24441566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374885426	chr11:24441580-24441581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529709006	chr11:24441589-24441590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4923172	chr11:24441620-24441621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11352794	chr11:24441640-24441641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56152704	chr11:24441653-24441654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115445824	chr11:24441693-24441694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559431094	chr11:24441695-24441696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533306033	chr11:24441743-24441744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577950856	chr11:24441745-24441746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534920854	chr11:24441835-24441836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10444264	chr11:24441837-24441838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571850327	chr11:24441895-24441896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537389095	chr11:24441961-24441962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113772547	chr11:24441979-24441980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573726654	chr11:24441989-24441990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542598431	chr11:24442002-24442003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553209403	chr11:24442033-24442034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11027892	chr11:24442106-24442107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:53)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24440200-24442800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:24442800-24443400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:24443000-24444200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:24443200-24443600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:24443200-24443600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:24443200-24443600	Enhancers	HMEC	breast
7	chr11:24443200-24444000	Enhancers	NHEK	skin
8	chr11:24449600-24450000	Enhancers	Fetal Intestine Large	intestine
9	chr11:24449800-24450200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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