Variant report

Variant	nsv591933
Chromosome Location	chr3:144994727-145041839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:145021934..145024791-chr3:145028136..145030465,2	K562	blood:
2	chr3:145006504..145009118-chr3:145011068..145013301,2	MCF-7	breast:
3	chr3:145021934..145024791-chr3:145028136..145030465,2	K562	blood:
4	chr3:145006504..145009118-chr3:145011068..145013301,2	MCF-7	breast:
5	chr3:145011656..145013483-chr3:145013706..145015700,2	MCF-7	breast:
6	chr3:145011656..145013483-chr3:145013706..145015700,2	MCF-7	breast:

Extended variants
information (count: 165 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189485512	chr3:145005094-145005095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528093022	chr3:145005095-145005096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546682893	chr3:145005100-145005101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558179028	chr3:145005118-145005119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551712913	chr3:145005128-145005129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181179036	chr3:145005133-145005134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371905335	chr3:145005152-145005153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142775077	chr3:145005176-145005177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377627113	chr3:145005178-145005179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527883215	chr3:145021400-145021401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552523422	chr3:145021446-145021447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187951980	chr3:145021474-145021475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538503702	chr3:145021475-145021476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550515046	chr3:145021492-145021493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568415258	chr3:145021507-145021508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543856972	chr3:145021550-145021551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554239723	chr3:145021572-145021573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536489028	chr3:145027246-145027247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146726024	chr3:145027258-145027259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193154827	chr3:145027271-145027272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534170304	chr3:145027278-145027279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184733031	chr3:145027284-145027285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140318740	chr3:145027322-145027323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566249223	chr3:145027408-145027409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538293655	chr3:145027409-145027410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556391135	chr3:145027419-145027420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7652254	chr3:145027435-145027436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs541703263	chr3:145027445-145027446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560371088	chr3:145027447-145027448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386666703	chr3:145027448-145027449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200992393	chr3:145027449-145027450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs36110028	chr3:145027450-145027451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs62274803	chr3:145027480-145027481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144170398	chr3:145027509-145027510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543107533	chr3:145027578-145027579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79879163	chr3:145031823-145031824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554377867	chr3:145031828-145031829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370962675	chr3:145031834-145031835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564230382	chr3:145031857-145031858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567512474	chr3:145031891-145031892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538031966	chr3:145031895-145031896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144085548	chr3:145031897-145031898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115706991	chr3:145031925-145031926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577951643	chr3:145031945-145031946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73018101	chr3:145031949-145031950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531413123	chr3:145031962-145031963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144503578	chr3:145031970-145031971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188127514	chr3:145031972-145031973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191447100	chr3:145031987-145031988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543065109	chr3:145032004-145032005	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145005000-145005200	Enhancers	GM12878-XiMat	blood
2	chr3:145021400-145021600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:145027200-145027600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:145031800-145032200	Enhancers	Fetal Kidney	kidney
5	chr3:145033000-145033800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:145033200-145033600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:145033200-145034800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:145033400-145033800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:145033400-145034400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:145038800-145039200	Enhancers	Cortex derived primary cultured neurospheres	brain

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