Variant report

Variant	nsv877897
Chromosome Location	chr3:164207439-164330094
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:15)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:164241773..164244042-chr3:164244735..164247521,2	MCF-7	breast:
2	chr3:164280228..164281066-chr3:164352373..164353274,2	MCF-7	breast:
3	chr3:164256176..164258649-chr3:164263680..164265313,2	MCF-7	breast:
4	chr3:164241644..164242499-chr3:164352238..164353178,5	MCF-7	breast:
5	chr3:164097711..164098324-chr3:164241488..164242187,2	MCF-7	breast:
6	chr3:164256176..164258649-chr3:164263680..164265313,2	MCF-7	breast:
7	chr3:164240704..164243300-chr3:164249655..164252008,2	MCF-7	breast:
8	chr3:164241669..164242499-chr3:164352238..164352926,2	MCF-7	breast:
9	chr3:164097711..164098324-chr3:164241488..164242482,3	MCF-7	breast:
10	chr3:164241773..164244042-chr3:164244735..164247521,2	MCF-7	breast:
11	chr3:164321063..164322898-chr3:164324839..164326487,2	K562	blood:
12	chr3:164097709..164098424-chr3:164241494..164242452,3	MCF-7	breast:
13	chr3:164240704..164243300-chr3:164249655..164252008,2	MCF-7	breast:
14	chr3:164321063..164322898-chr3:164324839..164326487,2	K562	blood:
15	chr3:164212016..164212593-chr6:120624651..120625343,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINI1-9	chr3:164326780-164326856	XLOC_002900
2	lnc-SERPINI1-9	chr3:164326780-164326856	XLOC_002900
3	lnc-SERPINI1-9	chr3:164326780-164326856	XLOC_002900
4	lnc-SERPINI1-9	chr3:164280960-164281013	XLOC_002900
5	lnc-SERPINI1-9	chr3:164326780-164326856	XLOC_002900
6	lnc-SI-3	chr3:164326845-164326860	XLOC_003312
7	lnc-SERPINI1-9	chr3:164326825-164326856	XLOC_002900
8	lnc-SERPINI1-9	chr3:164280960-164281013	XLOC_002900

No data

Variant related genes	Relation type
QKI	miRNA target sites
AKAP12	miRNA target sites
AKT1	miRNA target sites

Extended variants
information (count: 481 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371348163	chr3:164215224-164215225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571732095	chr3:164215252-164215253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540248488	chr3:164215265-164215266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75293954	chr3:164215280-164215281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529024032	chr3:164215324-164215325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190983315	chr3:164215391-164215392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183839857	chr3:164215405-164215406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79344160	chr3:164215471-164215472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144237668	chr3:164215488-164215489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533344474	chr3:164215539-164215540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551975333	chr3:164215634-164215635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376219170	chr3:164215652-164215653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549569059	chr3:164215717-164215718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201595725	chr3:164215724-164215725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533824122	chr3:164215734-164215735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565526106	chr3:164215785-164215786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527869070	chr3:164215786-164215787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1155950	chr3:164215811-164215812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188350590	chr3:164215828-164215829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74476961	chr3:164215871-164215872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535994373	chr3:164215908-164215909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555397084	chr3:164215927-164215928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575447182	chr3:164216156-164216157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145189335	chr3:164216159-164216160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557906650	chr3:164216180-164216181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115889206	chr3:164216223-164216224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59960322	chr3:164216294-164216295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397991544	chr3:164216303-164216304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199727496	chr3:164216338-164216339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192647878	chr3:164216345-164216346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201038170	chr3:164216346-164216347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397723396	chr3:164216353-164216354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547927452	chr3:164216387-164216388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149174099	chr3:164216397-164216398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142322378	chr3:164216400-164216401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529755363	chr3:164216487-164216488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567866351	chr3:164216517-164216518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531558700	chr3:164216619-164216620	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551630598	chr3:164216646-164216647	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1973165	chr3:164216659-164216660	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527627019	chr3:164216660-164216661	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184631908	chr3:164216725-164216726	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1551916	chr3:164216759-164216760	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs74663577	chr3:164216818-164216819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151306575	chr3:164216819-164216820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569035335	chr3:164216820-164216821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537930153	chr3:164216832-164216833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558370651	chr3:164216869-164216870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147634044	chr3:164216912-164216913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187639679	chr3:164216913-164216914	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164215200-164216600	Enhancers	Liver	Liver
2	chr3:164216600-164216800	Flanking Active TSS	Liver	Liver
3	chr3:164216600-164217200	Enhancers	HepG2	liver
4	chr3:164216800-164217600	Enhancers	Liver	Liver
5	chr3:164225600-164226000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:164225800-164226200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:164232800-164233400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:164239800-164240200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:164240000-164240400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:164240400-164240600	Weak transcription	Liver	Liver
11	chr3:164241600-164242800	Enhancers	HepG2	liver
12	chr3:164241600-164243000	Enhancers	Liver	Liver
13	chr3:164280600-164281000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:164285200-164285400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:164285200-164286200	Active TSS	Adipose Nuclei	Adipose
16	chr3:164285200-164286400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:164285400-164286200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:164285400-164286200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:164285400-164286200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:164285400-164286200	Active TSS	Liver	Liver
21	chr3:164292000-164292600	Enhancers	Fetal Kidney	kidney
22	chr3:164301600-164301800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:164325800-164326600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:164326400-164326600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:164326400-164326800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr3:164326600-164327000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:164326600-164327200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:164326800-164327000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr3:164327000-164331200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:164329600-164331800	Enhancers	Fetal Heart	heart

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