Variant report

Variant	nsv592855
Chromosome Location	chr3:191478656-191521852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191474938..191477385-chr3:191479227..191481235,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGF12-1	chr3:191500506-191500590	NONHSAT093983
2	lnc-FGF12-1	chr3:191500507-191500590	XLOC_003375

Extended variants
information (count: 1628 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1628 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs709113	chr3:191478656-191478657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77583376	chr3:191478780-191478781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373938215	chr3:191478822-191478823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143023495	chr3:191478946-191478947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547066863	chr3:191479038-191479039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563890038	chr3:191479039-191479040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529266874	chr3:191479053-191479054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187736414	chr3:191479137-191479138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569283995	chr3:191479139-191479140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538149840	chr3:191479145-191479146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552061556	chr3:191479146-191479147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571461637	chr3:191479149-191479150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192346750	chr3:191479157-191479158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553417568	chr3:191479169-191479170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374902811	chr3:191479182-191479183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535970743	chr3:191479185-191479186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555882262	chr3:191479191-191479192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184354549	chr3:191479210-191479211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544933738	chr3:191479241-191479242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75180702	chr3:191479244-191479245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146128905	chr3:191479297-191479298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372798217	chr3:191479306-191479307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138917881	chr3:191479378-191479379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529405835	chr3:191479422-191479423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549499183	chr3:191479450-191479451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80134681	chr3:191479455-191479456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375883442	chr3:191479460-191479461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562700981	chr3:191479470-191479471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35664683	chr3:191479525-191479526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531735560	chr3:191479638-191479639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191428125	chr3:191479652-191479653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs709114	chr3:191479666-191479667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs111361469	chr3:191479782-191479783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528956103	chr3:191479848-191479849	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs548969351	chr3:191479872-191479873	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs142465577	chr3:191479960-191479961	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs547564016	chr3:191480005-191480006	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572293134	chr3:191480017-191480018	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs188273812	chr3:191480023-191480024	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150533537	chr3:191480043-191480044	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs565292873	chr3:191480046-191480047	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs534307500	chr3:191480067-191480068	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs141935859	chr3:191480068-191480069	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547728240	chr3:191480082-191480083	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192976551	chr3:191480101-191480102	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs13069046	chr3:191480112-191480113	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538647717	chr3:191480145-191480146	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs377458791	chr3:191480160-191480161	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558535228	chr3:191480200-191480201	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs139488193	chr3:191480228-191480229	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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	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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191471600-191479800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:191479200-191480800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:191479400-191479800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:191479400-191480200	Enhancers	HSMM	muscle
5	chr3:191479600-191479800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:191479600-191479800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:191479600-191479800	Enhancers	NH-A	brain
8	chr3:191479600-191479800	Enhancers	Osteobl	bone
9	chr3:191479600-191480000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:191479600-191480200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:191479600-191480600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:191479600-191480800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:191479600-191480800	Enhancers	HepG2	liver
14	chr3:191479600-191480800	Enhancers	HUVEC	blood vessel
15	chr3:191479800-191480000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:191479800-191480000	Flanking Active TSS	NH-A	brain
17	chr3:191479800-191480000	Flanking Active TSS	Osteobl	bone
18	chr3:191479800-191480200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:191479800-191480200	Enhancers	Adipose Nuclei	Adipose
20	chr3:191479800-191480400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr3:191479800-191480400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:191479800-191480600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:191479800-191480600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:191479800-191480600	Enhancers	Fetal Kidney	kidney
25	chr3:191479800-191480600	Enhancers	HSMMtube	muscle
26	chr3:191479800-191480600	Active TSS	NHDF-Ad	bronchial
27	chr3:191479800-191480800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:191479800-191480800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:191479800-191480800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:191479800-191480800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:191479800-191480800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:191479800-191480800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:191479800-191480800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:191479800-191480800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:191479800-191480800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:191479800-191480800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr3:191479800-191480800	Enhancers	Hela-S3	cervix
38	chr3:191479800-191480800	Enhancers	HMEC	breast
39	chr3:191479800-191480800	Enhancers	NHEK	skin
40	chr3:191480000-191480200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:191480000-191480200	Enhancers	Osteobl	bone
42	chr3:191480000-191480400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr3:191480000-191480400	Active TSS	NH-A	brain
44	chr3:191480200-191480400	Active TSS	A549	lung
45	chr3:191480200-191480600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:191480200-191480600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:191480200-191480600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr3:191480200-191480600	Active TSS	HSMM	muscle
49	chr3:191480200-191480800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:191480200-191480800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links