Variant report

Variant	nsv965202
Chromosome Location	chr3:120217849-120219527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFB4-4	chr3:120218353-120218426	NONHSAT091451

Extended variants
information (count: 70 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371865801	chr3:120217852-120217853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531934162	chr3:120217903-120217904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542521118	chr3:120217946-120217947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562200175	chr3:120217949-120217950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538331963	chr3:120217958-120217959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35144927	chr3:120218067-120218068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529718665	chr3:120218075-120218076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553015284	chr3:120218086-120218087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546309795	chr3:120218126-120218127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566106838	chr3:120218177-120218178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113927317	chr3:120218191-120218192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373860086	chr3:120218192-120218193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200734102	chr3:120218208-120218209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1303244	chr3:120218209-120218210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111743096	chr3:120218210-120218211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78740678	chr3:120218211-120218212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201270024	chr3:120218219-120218220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192047418	chr3:120218232-120218233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184029528	chr3:120218235-120218236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151253610	chr3:120218244-120218245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535362139	chr3:120218249-120218250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186940145	chr3:120218271-120218272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146944353	chr3:120218273-120218274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543644110	chr3:120218329-120218330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199570417	chr3:120218339-120218340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35566783	chr3:120218340-120218341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs398106388	chr3:120218348-120218349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554869534	chr3:120218364-120218365	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs568230343	chr3:120218367-120218368	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs9857229	chr3:120218421-120218422	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553907157	chr3:120218458-120218459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs55671854	chr3:120218479-120218480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531280750	chr3:120218512-120218513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367827555	chr3:120218536-120218537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546362058	chr3:120218551-120218552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs137954397	chr3:120218555-120218556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117616182	chr3:120218566-120218567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376805315	chr3:120218625-120218626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369784459	chr3:120218626-120218627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189872697	chr3:120218639-120218640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137919137	chr3:120218710-120218711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs57513084	chr3:120218787-120218788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527320503	chr3:120218799-120218800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541706209	chr3:120218802-120218803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559756260	chr3:120218806-120218807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372464743	chr3:120218813-120218814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531938863	chr3:120218961-120218962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551857898	chr3:120218970-120218971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568583443	chr3:120218988-120218989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531548446	chr3:120218994-120218995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120214600-120218400	Enhancers	Rectal Smooth Muscle	rectum
2	chr3:120214600-120218400	Enhancers	HUVEC	blood vessel
3	chr3:120214800-120218400	Enhancers	Hela-S3	cervix
4	chr3:120214800-120218600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:120214800-120218800	Enhancers	NHLF	lung
6	chr3:120215200-120218200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:120215200-120218200	Enhancers	HMEC	breast
8	chr3:120215200-120218400	Enhancers	Fetal Kidney	kidney
9	chr3:120215400-120218200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:120215400-120218400	Enhancers	HSMM	muscle
11	chr3:120215600-120219600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:120216000-120218800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:120216200-120218600	Enhancers	NHDF-Ad	bronchial
14	chr3:120216200-120218800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:120216400-120218200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:120216400-120218400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:120216400-120218600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:120216400-120219800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:120216400-120219800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:120216600-120218400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:120216800-120218000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:120216800-120218000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:120216800-120218000	Weak transcription	Fetal Heart	heart
24	chr3:120216800-120218000	Enhancers	HSMMtube	muscle
25	chr3:120216800-120218400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:120216800-120219400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:120217000-120218600	Enhancers	NH-A	brain
28	chr3:120217000-120219000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:120217000-120219000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:120217000-120219000	Enhancers	Osteobl	bone
31	chr3:120217000-120219400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:120217000-120225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:120217000-120225200	Weak transcription	Aorta	Aorta
34	chr3:120217200-120218400	Enhancers	Adipose Nuclei	Adipose
35	chr3:120217200-120218800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:120217400-120218000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:120217400-120218000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr3:120217400-120218600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr3:120217600-120218000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr3:120217600-120218000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr3:120217600-120218000	Enhancers	A549	lung
42	chr3:120217600-120218200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:120217600-120218400	Enhancers	Fetal Lung	lung
44	chr3:120217600-120218600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr3:120217800-120218000	Enhancers	Fetal Muscle Leg	muscle
46	chr3:120217800-120218000	Enhancers	Left Ventricle	heart
47	chr3:120217800-120218000	Enhancers	Right Ventricle	heart
48	chr3:120217800-120218400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:120217800-120218600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:120218000-120218400	Enhancers	Fetal Heart	heart

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