Variant report

Variant	nsv525345
Chromosome Location	chr4:142129314-142132962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF330-2	chr4:142129715-142130140	NONHSAT098517
2	lnc-ZNF330-2	chr4:142128797-142130411	NONHSAT098516

Extended variants
information (count: 130 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13129840	chr4:142129314-142129315	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs13129853	chr4:142129333-142129334	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs550994677	chr4:142129362-142129363	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs372078455	chr4:142129383-142129384	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs13111980	chr4:142129440-142129441	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs544239012	chr4:142129447-142129448	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs562332518	chr4:142129503-142129504	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs552046157	chr4:142129516-142129517	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs62327563	chr4:142129517-142129518	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs112449771	chr4:142129518-142129519	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs75574072	chr4:142129519-142129520	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs191422809	chr4:142129522-142129523	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs559939403	chr4:142129572-142129573	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs527451590	chr4:142129596-142129597	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs17349945	chr4:142129632-142129633	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs1435129	chr4:142129680-142129681	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs17428238	chr4:142129712-142129713	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs184578631	chr4:142129715-142129716	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs569134601	chr4:142129735-142129736	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs539943998	chr4:142129757-142129758	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs13112869	chr4:142129769-142129770	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs374467210	chr4:142129772-142129773	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs567079037	chr4:142129826-142129827	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs577308033	chr4:142129852-142129853	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs555992006	chr4:142129863-142129864	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs574312985	chr4:142129889-142129890	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs113113576	chr4:142129944-142129945	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs147618687	chr4:142130010-142130011	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs377624907	chr4:142130032-142130033	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs373796169	chr4:142130062-142130063	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs28700051	chr4:142130065-142130066	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142255001	chr4:142130096-142130097	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs6851044	chr4:142130107-142130108	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs571914584	chr4:142130162-142130163	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs373645522	chr4:142130187-142130188	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs566839423	chr4:142130194-142130195	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs189411646	chr4:142130229-142130230	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs560740601	chr4:142130236-142130237	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs181612731	chr4:142130257-142130258	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs557742425	chr4:142130291-142130292	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs549778785	chr4:142130311-142130312	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs36217499	chr4:142130366-142130367	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs56405369	chr4:142130369-142130370	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs200320701	chr4:142130377-142130378	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs397995602	chr4:142130382-142130383	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs185219858	chr4:142130397-142130398	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs533134689	chr4:142130459-142130460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551905157	chr4:142130462-142130463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112486988	chr4:142130503-142130504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542870965	chr4:142130576-142130577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142128400-142130000	Weak transcription	Brain Anterior Caudate	brain
2	chr4:142129000-142129600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:142129000-142129800	Enhancers	GM12878-XiMat	blood
4	chr4:142129200-142129400	Enhancers	Liver	Liver
5	chr4:142129200-142129600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:142129200-142129600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr4:142129400-142129600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:142129400-142129800	Flanking Active TSS	Liver	Liver
9	chr4:142129600-142130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:142130000-142130200	Enhancers	Brain Anterior Caudate	brain
11	chr4:142130200-142133400	Weak transcription	Brain Anterior Caudate	brain
12	chr4:142131400-142132200	Enhancers	Pancreatic Islets	Pancreatic Islet

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