Variant report

Variant	nsv975839
Chromosome Location	chr11:45346121-45350850
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	chr11:45335928..45338773-chr11:45344348..45346925,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRDM11-8	chr11:45349524-45350967	ucscGeneNc_uc001myr_1

Extended variants
information (count: 75 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541999104	chr11:45346128-45346129	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs181520270	chr11:45346134-45346135	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs7112192	chr11:45346161-45346162	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532190193	chr11:45346237-45346238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186652515	chr11:45346238-45346239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547886647	chr11:45346251-45346252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568892092	chr11:45346287-45346288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537958508	chr11:45346307-45346308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554436963	chr11:45346344-45346345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147598076	chr11:45346384-45346385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112438152	chr11:45346403-45346404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553699979	chr11:45346432-45346433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576806158	chr11:45346441-45346442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545828388	chr11:45346452-45346453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565974497	chr11:45346469-45346470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370315448	chr11:45346471-45346472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576431431	chr11:45346510-45346511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376430058	chr11:45346521-45346522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199499826	chr11:45346522-45346523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542312372	chr11:45346578-45346579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548518447	chr11:45349549-45349550	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs371980624	chr11:45349560-45349561	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs150809389	chr11:45349581-45349582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs189216377	chr11:45349644-45349645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs577637359	chr11:45349663-45349664	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs543154459	chr11:45349700-45349701	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs568032703	chr11:45349712-45349713	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs4755315	chr11:45349726-45349727	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181934035	chr11:45349732-45349733	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs542924984	chr11:45349735-45349736	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs77290946	chr11:45349789-45349790	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs139192454	chr11:45349805-45349806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs114921036	chr11:45349808-45349809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs374915602	chr11:45349822-45349823	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs34592798	chr11:45349857-45349858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs78222928	chr11:45349946-45349947	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs115007375	chr11:45349989-45349990	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs550836465	chr11:45350024-45350025	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs4755969	chr11:45350039-45350040	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs546872256	chr11:45350059-45350060	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs570523518	chr11:45350115-45350116	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs114484681	chr11:45350124-45350125	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs4755970	chr11:45350127-45350128	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs577572461	chr11:45350128-45350129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs76469918	chr11:45350149-45350150	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs112785364	chr11:45350158-45350159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs376893867	chr11:45350179-45350180	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs34131056	chr11:45350194-45350195	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs10838450	chr11:45350207-45350208	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573766314	chr11:45350268-45350269	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21364760	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45342400-45346400	Enhancers	Fetal Muscle Leg	muscle
2	chr11:45344200-45346600	Enhancers	Fetal Muscle Trunk	muscle
3	chr11:45344400-45346400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr11:45346000-45346200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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