Variant report

Variant	nsv7711
Chromosome Location	chr11:24332449-24358933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 368 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114986181	chr11:24332496-24332497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs574720063	chr11:24332503-24332504	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115855342	chr11:24332505-24332506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144785318	chr11:24332565-24332566	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538122758	chr11:24332597-24332598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs148596551	chr11:24332665-24332666	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574372923	chr11:24332667-24332668	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs533509507	chr11:24332708-24332709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs553737483	chr11:24332716-24332717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs576829344	chr11:24332782-24332783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs545514968	chr11:24332827-24332828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12271515	chr11:24332893-24332894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527948110	chr11:24332938-24332939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146060948	chr11:24332941-24332942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544491827	chr11:24332968-24332969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187272685	chr11:24332992-24332993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140009847	chr11:24333014-24333015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376836218	chr11:24333025-24333026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573179121	chr11:24333056-24333057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371194215	chr11:24333059-24333060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192004021	chr11:24333168-24333169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72874179	chr11:24333283-24333284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs894530	chr11:24333302-24333303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs552742031	chr11:24333303-24333304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578016632	chr11:24333329-24333330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569063949	chr11:24333334-24333335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188226950	chr11:24333411-24333412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545192133	chr11:24333611-24333612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548409614	chr11:24333614-24333615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568226129	chr11:24333615-24333616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534107947	chr11:24333630-24333631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553459711	chr11:24333643-24333644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563485678	chr11:24333735-24333736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570454510	chr11:24333751-24333752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143710975	chr11:24333762-24333763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151283009	chr11:24333772-24333773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140485994	chr11:24333776-24333777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544350496	chr11:24333777-24333778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1806939	chr11:24333789-24333790	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575006303	chr11:24333791-24333792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2012346	chr11:24333824-24333825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149730952	chr11:24333908-24333909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532590934	chr11:24333911-24333912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192798742	chr11:24333913-24333914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184270933	chr11:24333920-24333921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117604339	chr11:24333926-24333927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550381958	chr11:24333939-24333940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1806938	chr11:24333941-24333942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568266741	chr11:24333950-24333951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546299385	chr11:24334002-24334003	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24331800-24332800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:24332400-24334000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:24332800-24334000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:24333200-24335000	Enhancers	HUVEC	blood vessel
5	chr11:24333600-24334600	Enhancers	Dnd41	blood
6	chr11:24333800-24334200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:24334000-24334200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:24334000-24334600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:24334000-24334600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:24334000-24334600	Enhancers	NH-A	brain
11	chr11:24339800-24340000	ZNF genes & repeats	Fetal Heart	heart
12	chr11:24340000-24340400	Active TSS	Fetal Heart	heart
13	chr11:24340400-24340800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:24340400-24342400	Weak transcription	Fetal Heart	heart
15	chr11:24342400-24344400	Enhancers	Fetal Heart	heart
16	chr11:24345000-24346200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:24345200-24346200	Enhancers	NH-A	brain
18	chr11:24345400-24346200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:24345400-24346200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:24345600-24346200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:24345600-24346400	Enhancers	HUVEC	blood vessel

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