Variant report

Variant	nsv901820
Chromosome Location	chr14:44499948-44530722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-2	chr14:44518586-44518710	ENSG00000258969

Extended variants
information (count: 198 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1955976	chr14:44499948-44499949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75300406	chr14:44499955-44499956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537615208	chr14:44500026-44500027	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs149074631	chr14:44500045-44500046	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143133202	chr14:44500081-44500082	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557553329	chr14:44500082-44500083	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs79556242	chr14:44500085-44500086	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573762048	chr14:44500115-44500116	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139516365	chr14:44500124-44500125	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12883225	chr14:44500125-44500126	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs12883227	chr14:44500127-44500128	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs138705702	chr14:44500130-44500131	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs117686954	chr14:44500136-44500137	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12882097	chr14:44500139-44500140	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs142758993	chr14:44500224-44500225	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs554017321	chr14:44500242-44500243	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564137318	chr14:44500266-44500267	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs114790961	chr14:44500278-44500279	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115645498	chr14:44500380-44500381	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs189779338	chr14:44500388-44500389	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192784062	chr14:44500414-44500415	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146965990	chr14:44500422-44500423	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs137881733	chr14:44500435-44500436	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533448568	chr14:44500448-44500449	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552146402	chr14:44500504-44500505	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571597347	chr14:44500511-44500512	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62012600	chr14:44500580-44500581	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141652156	chr14:44500599-44500600	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555426696	chr14:44500604-44500605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1950540	chr14:44500682-44500683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534728554	chr14:44500687-44500688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1040692	chr14:44500703-44500704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577816231	chr14:44500730-44500731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150682879	chr14:44500782-44500783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139993489	chr14:44500862-44500863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575185102	chr14:44500869-44500870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543383067	chr14:44500933-44500934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149397083	chr14:44500953-44500954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370816018	chr14:44500957-44500958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541553861	chr14:44500979-44500980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146369526	chr14:44501105-44501106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1955975	chr14:44501117-44501118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552086724	chr14:44501124-44501125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570328111	chr14:44501133-44501134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1569904	chr14:44501161-44501162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548960156	chr14:44501162-44501163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527917698	chr14:44501184-44501185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139724219	chr14:44501191-44501192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534418297	chr14:44501202-44501203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553061358	chr14:44501224-44501225	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44498800-44500600	Enhancers	Fetal Intestine Large	intestine
2	chr14:44499600-44500000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:44499600-44500200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:44499600-44500400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr14:44499600-44500800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:44499800-44500600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:44499800-44500600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:44499800-44500600	Enhancers	Fetal Intestine Small	intestine
9	chr14:44499800-44501000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:44500000-44500200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:44500000-44500400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr14:44500000-44500400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:44500000-44500400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:44500000-44500400	Enhancers	Fetal Heart	heart
15	chr14:44500000-44500600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:44500000-44500600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr14:44500000-44500600	Enhancers	Fetal Stomach	stomach
18	chr14:44500000-44500800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:44500000-44500800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr14:44500000-44501000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:44500000-44501000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:44500200-44500600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:44500200-44500800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:44500200-44500800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr14:44500200-44501400	Enhancers	Brain Germinal Matrix	brain
26	chr14:44500400-44500600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:44500600-44500800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr14:44507600-44509200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:44508400-44508600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:44508600-44509200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:44510000-44510200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:44514000-44514400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:44526000-44526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:44526600-44527600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links