Variant report

Variant	nsv536759
Chromosome Location	chr3:146087689-146123589
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:6)
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	chr3:146090461..146092431-chr3:146097019..146099426,2	MCF-7	breast:
2	chr3:146100063..146100757-chr3:146220788..146221766,2	MCF-7	breast:
3	chr3:146090461..146092431-chr3:146097019..146099426,2	MCF-7	breast:
4	chr3:146044568..146045746-chr3:146099870..146100750,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLSCR2-1	chr3:146109150-146109349	NONHSAT092556
2	lnc-PLSCR2-1	chr3:146113527-146113702	NONHSAT092557
3	lnc-PLSCR2-1	chr3:146116444-146116610	NONHSAT092557
4	lnc-PLSCR2-1	chr3:146119142-146119363	NONHSAT092557
5	lnc-PLSCR2-1	chr3:146119147-146119346	NONHSAT092556
6	lnc-PLSCR2-1	chr3:146113547-146113708	NONHSAT092556

No data

Extended variants
information (count: 1319 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1319 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570056091	chr3:146087689-146087690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377220195	chr3:146087720-146087721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370038410	chr3:146087746-146087747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116220020	chr3:146087763-146087764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573203623	chr3:146087766-146087767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9855283	chr3:146087767-146087768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75579601	chr3:146087776-146087777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190850438	chr3:146087785-146087786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532490593	chr3:146087797-146087798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550853783	chr3:146087817-146087818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148190971	chr3:146087859-146087860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182651735	chr3:146087861-146087862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370636132	chr3:146087903-146087904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555651813	chr3:146087924-146087925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548284621	chr3:146087955-146087956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566482713	chr3:146087962-146087963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75073319	chr3:146087983-146087984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372899069	chr3:146087995-146087996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372480122	chr3:146088014-146088015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142705816	chr3:146088044-146088045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570103033	chr3:146088045-146088046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375687126	chr3:146088071-146088072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377521483	chr3:146088073-146088074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369943534	chr3:146088076-146088077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373446608	chr3:146088077-146088078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567514263	chr3:146088148-146088149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376867007	chr3:146088164-146088165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13074112	chr3:146088250-146088251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188792407	chr3:146088267-146088268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370200617	chr3:146088268-146088269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13074125	chr3:146088272-146088273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13096627	chr3:146088276-146088277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575455204	chr3:146088284-146088285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150791936	chr3:146088288-146088289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193300735	chr3:146088320-146088321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573284079	chr3:146088330-146088331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139434529	chr3:146088342-146088343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565291460	chr3:146088350-146088351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577263394	chr3:146088434-146088435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544540451	chr3:146088447-146088448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76797418	chr3:146088488-146088489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562740673	chr3:146088515-146088516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529986837	chr3:146088531-146088532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183207238	chr3:146088565-146088566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142526689	chr3:146088610-146088611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187488346	chr3:146088707-146088708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527432920	chr3:146088709-146088710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34725789	chr3:146088711-146088712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551811175	chr3:146088750-146088751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570113509	chr3:146088753-146088754	Weak transcription 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
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146086400-146088600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:146087200-146090400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:146088600-146089200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:146089400-146092400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:146090400-146091800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:146090600-146093000	Enhancers	Fetal Lung	lung
7	chr3:146090800-146091200	Enhancers	Ovary	ovary
8	chr3:146090800-146093200	Enhancers	Fetal Stomach	stomach
9	chr3:146091000-146091200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:146091200-146092400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:146091200-146092600	Weak transcription	Ovary	ovary
12	chr3:146091600-146093200	Enhancers	HSMMtube	muscle
13	chr3:146091600-146094800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:146091800-146092800	Enhancers	Colon Smooth Muscle	Colon
15	chr3:146091800-146092800	Enhancers	A549	lung
16	chr3:146091800-146093200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:146092000-146092400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:146092000-146094000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:146092400-146092800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:146092400-146093000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:146092400-146093200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:146092600-146093000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr3:146092600-146093200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:146092600-146093200	Enhancers	Ovary	ovary
25	chr3:146092800-146093000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:146092800-146093000	Enhancers	Osteobl	bone
27	chr3:146092800-146093200	Enhancers	Brain Germinal Matrix	brain
28	chr3:146092800-146093200	Enhancers	Left Ventricle	heart
29	chr3:146092800-146093200	Enhancers	Psoas Muscle	Psoas
30	chr3:146092800-146093200	Enhancers	NHDF-Ad	bronchial
31	chr3:146092800-146093400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:146093000-146093800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:146093000-146098400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:146093000-146104800	Weak transcription	Fetal Lung	lung
35	chr3:146093200-146095800	Weak transcription	Ovary	ovary
36	chr3:146093800-146094600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:146095800-146096000	Enhancers	Ovary	ovary
38	chr3:146097600-146098800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr3:146097800-146098600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr3:146097800-146099000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr3:146098400-146098800	Enhancers	Colonic Mucosa	Colon
42	chr3:146098400-146098800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr3:146099000-146100600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:146100400-146101200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr3:146100400-146101600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:146100600-146100800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:146100600-146101000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:146100600-146101200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:146100600-146101200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:146100800-146101600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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