Variant report

Variant	nsv901811
Chromosome Location	chr14:44462907-44536451
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	chr14:44480170..44481920-chr14:44484152..44486382,2	MCF-7	breast:
2	chr14:44480170..44481920-chr14:44484152..44486382,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-8	chr14:44477505-44479523	ucscGeneNc_uc001wvs_1
2	lnc-FSCB-2	chr14:44518586-44518710	ENSG00000258969
3	lnc-FSCB-2	chr14:44464984-44465046	ENSG00000258969

Extended variants
information (count: 460 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533473881	chr14:44464803-44464804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2103895	chr14:44464804-44464805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542026418	chr14:44464813-44464814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374269323	chr14:44464852-44464853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183771568	chr14:44464861-44464862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549018414	chr14:44464873-44464874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567293355	chr14:44464892-44464893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534797421	chr14:44464954-44464955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553236630	chr14:44464998-44464999	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs537091083	chr14:44465005-44465006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs577981131	chr14:44465038-44465039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs548991469	chr14:44472829-44472830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567343105	chr14:44472935-44472936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143447829	chr14:44472943-44472944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555312269	chr14:44473600-44473601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139310163	chr14:44473710-44473711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546563916	chr14:44473743-44473744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540263060	chr14:44473785-44473786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564813251	chr14:44473798-44473799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11627798	chr14:44477544-44477545	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557667420	chr14:44477579-44477580	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs557820927	chr14:44477638-44477639	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs577408944	chr14:44477710-44477711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs540087105	chr14:44477755-44477756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs567566952	chr14:44477772-44477773	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs576164361	chr14:44477788-44477789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs74332057	chr14:44477847-44477848	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs537226623	chr14:44477889-44477890	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs555505778	chr14:44477963-44477964	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs553930040	chr14:44477978-44477979	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs574185881	chr14:44478019-44478020	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs541315614	chr14:44478039-44478040	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs560041417	chr14:44478059-44478060	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs574089210	chr14:44478106-44478107	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs577554074	chr14:44478220-44478221	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs182773688	chr14:44478263-44478264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs375622075	chr14:44478348-44478349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs12434322	chr14:44478353-44478354	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201559982	chr14:44478372-44478373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs148105238	chr14:44478375-44478376	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs141885544	chr14:44478378-44478379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs561028221	chr14:44478398-44478399	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs56693566	chr14:44478413-44478414	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs371966791	chr14:44478449-44478450	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs571557764	chr14:44478457-44478458	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs539435732	chr14:44478492-44478493	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs545705637	chr14:44478538-44478539	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs72680766	chr14:44478559-44478560	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569730048	chr14:44478599-44478600	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs10083537	chr14:44478600-44478601	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44464800-44465000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:44472800-44473000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:44473600-44473800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:44478400-44481000	Enhancers	Liver	Liver
5	chr14:44479000-44480800	Enhancers	HepG2	liver
6	chr14:44496600-44497000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:44497000-44498800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:44497600-44497800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:44498800-44499800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:44498800-44500600	Enhancers	Fetal Intestine Large	intestine
11	chr14:44499600-44500000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:44499600-44500200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:44499600-44500400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:44499600-44500800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr14:44499800-44500600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:44499800-44500600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:44499800-44500600	Enhancers	Fetal Intestine Small	intestine
18	chr14:44499800-44501000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr14:44500000-44500200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:44500000-44500400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr14:44500000-44500400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:44500000-44500400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:44500000-44500400	Enhancers	Fetal Heart	heart
24	chr14:44500000-44500600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:44500000-44500600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:44500000-44500600	Enhancers	Fetal Stomach	stomach
27	chr14:44500000-44500800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:44500000-44500800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr14:44500000-44501000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:44500000-44501000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:44500200-44500600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr14:44500200-44500800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:44500200-44500800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr14:44500200-44501400	Enhancers	Brain Germinal Matrix	brain
35	chr14:44500400-44500600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:44500600-44500800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:44507600-44509200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:44508400-44508600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:44508600-44509200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:44510000-44510200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:44514000-44514400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr14:44526000-44526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:44526600-44527600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:44536200-44536600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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