Variant report

Variant	nsv1002182
Chromosome Location	chr3:164267629-164307446
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	chr3:164280228..164281066-chr3:164352373..164353274,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINI1-9	chr3:164280960-164281013	XLOC_002900
2	lnc-SERPINI1-9	chr3:164280960-164281013	XLOC_002900

Variant related genes	Relation type
AKAP12	miRNA target sites
QKI	miRNA target sites

Extended variants
information (count: 69 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58357398	chr3:164280608-164280609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373851275	chr3:164280639-164280640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557255524	chr3:164280669-164280670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571020463	chr3:164280699-164280700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540142539	chr3:164280712-164280713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553664570	chr3:164280724-164280725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572919622	chr3:164280730-164280731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188451901	chr3:164280783-164280784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555468734	chr3:164280838-164280839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368685054	chr3:164280879-164280880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575234376	chr3:164280977-164280978	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs115476213	chr3:164285231-164285232	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144529115	chr3:164285274-164285275	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147838110	chr3:164285281-164285282	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565844453	chr3:164285289-164285290	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114735285	chr3:164285291-164285292	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548135084	chr3:164285297-164285298	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550154285	chr3:164285305-164285306	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567659072	chr3:164285358-164285359	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190358873	chr3:164285402-164285403	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs150202048	chr3:164285459-164285460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs145697573	chr3:164285463-164285464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576114869	chr3:164285482-164285483	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs182753184	chr3:164285497-164285498	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558750318	chr3:164285553-164285554	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572501406	chr3:164285570-164285571	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375089888	chr3:164285620-164285621	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187047882	chr3:164285621-164285622	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114926366	chr3:164285660-164285661	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539761993	chr3:164285692-164285693	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535733038	chr3:164285758-164285759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs13319346	chr3:164285764-164285765	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs115912281	chr3:164285780-164285781	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114784698	chr3:164285789-164285790	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs563406926	chr3:164285821-164285822	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs533095975	chr3:164285884-164285885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs562166908	chr3:164285930-164285931	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532258675	chr3:164285992-164285993	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs148960483	chr3:164286045-164286046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs559500008	chr3:164286066-164286067	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs12636601	chr3:164286133-164286134	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs72358027	chr3:164286157-164286158	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs398106695	chr3:164286158-164286159	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530997551	chr3:164286171-164286172	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs34916582	chr3:164286174-164286175	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs12639026	chr3:164286217-164286218	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568258953	chr3:164286248-164286249	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs192196445	chr3:164286304-164286305	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184993327	chr3:164286339-164286340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs111827162	chr3:164286355-164286356	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164280600-164281000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr3:164285200-164285400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:164285200-164286200	Active TSS	Adipose Nuclei	Adipose
4	chr3:164285200-164286400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:164285400-164286200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:164285400-164286200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:164285400-164286200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:164285400-164286200	Active TSS	Liver	Liver
9	chr3:164292000-164292600	Enhancers	Fetal Kidney	kidney
10	chr3:164301600-164301800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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