Variant report

Variant	nsv877597
Chromosome Location	chr3:145066128-145147420
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:145089993..145092059-chr3:145098025..145100330,2	MCF-7	breast:
2	chr3:145083751..145085344-chr3:145088911..145090506,2	K562	blood:
3	chr3:145072717..145074625-chr3:145076447..145079320,2	MCF-7	breast:
4	chr3:145072717..145074625-chr3:145076447..145079320,2	MCF-7	breast:
5	chr3:145070588..145072380-chr3:145074616..145076227,2	MCF-7	breast:
6	chr3:145089993..145092059-chr3:145098025..145100330,2	MCF-7	breast:
7	chr3:145063874..145066771-chr3:145068629..145070450,2	K562	blood:
8	chr3:144983651..144984522-chr3:145123095..145123660,2	MCF-7	breast:
9	chr3:145063874..145066771-chr3:145068629..145070450,2	K562	blood:
10	chr3:145070588..145072380-chr3:145074616..145076227,2	MCF-7	breast:
11	chr3:145113957..145115664-chr3:145117395..145120125,2	MCF-7	breast:
12	chr3:145083751..145085344-chr3:145088911..145090506,2	K562	blood:
13	chr3:145113957..145115664-chr3:145117395..145120125,2	MCF-7	breast:
14	chr3:145061451..145063891-chr3:145082446..145084868,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC107021.1-9	chr3:145091512-145091541	NONHSAT092537
2	lnc-AC107021.1-9	chr3:145093215-145098582	NONHSAT092537

No data

Extended variants
information (count: 1446 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1446 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12490099	chr3:145066128-145066129	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559351748	chr3:145066174-145066175	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184439210	chr3:145066191-145066192	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs146750632	chr3:145066196-145066197	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564384685	chr3:145066256-145066257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28790962	chr3:145066294-145066295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368350052	chr3:145066310-145066311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531862513	chr3:145066324-145066325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550094614	chr3:145066326-145066327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140550979	chr3:145066328-145066329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200165950	chr3:145066365-145066366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529221786	chr3:145066370-145066371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547478401	chr3:145066386-145066387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566125598	chr3:145066395-145066396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202028170	chr3:145066399-145066400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398082531	chr3:145066401-145066402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397875578	chr3:145066402-145066403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200848863	chr3:145066403-145066404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189029536	chr3:145066462-145066463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4681092	chr3:145066524-145066525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551256240	chr3:145066618-145066619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181082988	chr3:145066642-145066643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555669620	chr3:145066662-145066663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573983860	chr3:145066831-145066832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2699913	chr3:145066858-145066859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368019908	chr3:145066907-145066908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13074020	chr3:145066933-145066934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570712916	chr3:145066950-145066951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184931058	chr3:145066951-145066952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149214147	chr3:145066958-145066959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544803500	chr3:145067006-145067007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564323853	chr3:145067021-145067022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62271599	chr3:145067038-145067039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543631685	chr3:145067055-145067056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188997438	chr3:145067064-145067065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181088063	chr3:145067065-145067066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547761459	chr3:145067069-145067070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1822912	chr3:145067127-145067128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533445751	chr3:145067226-145067227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73007153	chr3:145067249-145067250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565032155	chr3:145067252-145067253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368921001	chr3:145067254-145067255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386666714	chr3:145067298-145067299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111899102	chr3:145067299-145067300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1445373	chr3:145067300-145067301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1373859	chr3:145067341-145067342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371630310	chr3:145067408-145067409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567556005	chr3:145067427-145067428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533414928	chr3:145067468-145067469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552910313	chr3:145067494-145067495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145054800-145070200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:145066000-145066200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:145066000-145066200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:145066000-145066200	ZNF genes & repeats	Pancreas	Pancrea
5	chr3:145070200-145070600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr3:145070600-145071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:145071400-145073000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr3:145074200-145076400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr3:145075000-145075600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr3:145075600-145076800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:145076400-145084600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:145076800-145077200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:145079600-145079800	Enhancers	Fetal Brain Male	brain
14	chr3:145083200-145083400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:145083400-145084400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:145084400-145084800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:145084600-145086000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:145086000-145092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:145088200-145088600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:145088400-145088600	Enhancers	Colon Smooth Muscle	Colon
21	chr3:145088400-145089000	Active TSS	Stomach Smooth Muscle	stomach
22	chr3:145088600-145089000	Enhancers	Rectal Smooth Muscle	rectum
23	chr3:145092000-145093000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr3:145093000-145106200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:145101200-145101800	Active TSS	Stomach Smooth Muscle	stomach
26	chr3:145101800-145102000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr3:145102200-145102600	Enhancers	Fetal Stomach	stomach
28	chr3:145102400-145102600	Enhancers	Colon Smooth Muscle	Colon
29	chr3:145102600-145103400	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:145103400-145103600	Enhancers	Colon Smooth Muscle	Colon
31	chr3:145103600-145105000	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:145105200-145105400	Enhancers	Colon Smooth Muscle	Colon
33	chr3:145113200-145113600	Active TSS	Spleen	Spleen
34	chr3:145139800-145140800	Enhancers	Fetal Lung	lung

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