Variant report

Variant	nsv1009148
Chromosome Location	chr2:185151303-185176350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:185169023..185171389-chr2:185175264..185178248,2	K562	blood:
2	chr2:185169023..185171389-chr2:185175264..185178248,2	K562	blood:
3	chr2:185160917..185163331-chr2:185190953..185193318,2	K562	blood:
4	chr16:57227705..57228253-chr2:185151504..185152004,2	NB4	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NCKAP1-4	chr2:185169077-185169159	l_2003_chr2:185169076-185171314_76bGuttman_hLF
2	lnc-NCKAP1-4	chr2:185171240-185171314	l_2003_chr2:185169076-185171314_76bGuttman_hLF
3	lnc-NCKAP1-4	chr2:185169187-185169348	l_2003_chr2:185169076-185171314_76bGuttman_hLF

No data

Extended variants
information (count: 66 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532511854	chr2:185167445-185167446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547547496	chr2:185167479-185167480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13003128	chr2:185167549-185167550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192060635	chr2:185167562-185167563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565298295	chr2:185167590-185167591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372320639	chr2:185167619-185167620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72902858	chr2:185167658-185167659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189252841	chr2:185167736-185167737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556238968	chr2:185167855-185167856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192464732	chr2:185167886-185167887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562034544	chr2:185167947-185167948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545132861	chr2:185167951-185167952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553960861	chr2:185167962-185167963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72902859	chr2:185167981-185167982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542872894	chr2:185167983-185167984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547657384	chr2:185167999-185168000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561003001	chr2:185168017-185168018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115948852	chr2:185168027-185168028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375254930	chr2:185168046-185168047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565946512	chr2:185168106-185168107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564946934	chr2:185168222-185168223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62176409	chr2:185168320-185168321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73978279	chr2:185168321-185168322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184321288	chr2:185168373-185168374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530219514	chr2:185168436-185168437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189575368	chr2:185168473-185168474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570246959	chr2:185168510-185168511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17582879	chr2:185168559-185168560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181115513	chr2:185168566-185168567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570059214	chr2:185168569-185168570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537446327	chr2:185168599-185168600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149743881	chr2:185168629-185168630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144698613	chr2:185168694-185168695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375410010	chr2:185168731-185168732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186307589	chr2:185168786-185168787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542455848	chr2:185168788-185168789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370599416	chr2:185168834-185168835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370144626	chr2:185168852-185168853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554789658	chr2:185168865-185168866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576218444	chr2:185168958-185168959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543317698	chr2:185168978-185168979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189245559	chr2:185169025-185169026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181528251	chr2:185169044-185169045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs386653435	chr2:185169196-185169197	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs541063218	chr2:185169198-185169199	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs116052120	chr2:185169225-185169226	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs79120985	chr2:185169229-185169230	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs148510013	chr2:185169244-185169245	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs80011435	chr2:185169248-185169249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs144176571	chr2:185169285-185169286	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185167400-185169200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:185167600-185168600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:185168600-185169400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:185169600-185169800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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