Variant report

Variant	nsv1053875
Chromosome Location	chr14:85618698-85673619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-497E19.2.1-6	chr14:85664047-85664205	l_1023_chr14:85606971-85664205_whiteBloodCell
2	lnc-GALC-10	chr14:85669193-85669576	ENSG00000259044

Extended variants
information (count: 1224 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563452497	chr14:85624803-85624804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28672796	chr14:85624831-85624832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140349763	chr14:85624871-85624872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550908215	chr14:85624875-85624876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537129928	chr14:85624907-85624908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146985429	chr14:85624922-85624923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184640135	chr14:85624933-85624934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12897852	chr14:85624961-85624962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs111654422	chr14:85627603-85627604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111785651	chr14:85627604-85627605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191302515	chr14:85627622-85627623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs566729413	chr14:85627652-85627653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs142915905	chr14:85627658-85627659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs555522009	chr14:85627673-85627674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs115469449	chr14:85627674-85627675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs182571834	chr14:85627696-85627697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556976877	chr14:85627726-85627727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs146127861	chr14:85627754-85627755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187141772	chr14:85627773-85627774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140062258	chr14:85627803-85627804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371041651	chr14:85627866-85627867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs80335374	chr14:85627876-85627877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs562247964	chr14:85627930-85627931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs552190098	chr14:85627942-85627943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570899554	chr14:85627953-85627954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs560332701	chr14:85627981-85627982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs151097725	chr14:85628034-85628035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369284701	chr14:85628041-85628042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs142071028	chr14:85628083-85628084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs370169006	chr14:85628091-85628092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs12895341	chr14:85628104-85628105	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189620786	chr14:85628143-85628144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372484670	chr14:85628153-85628154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551321589	chr14:85628157-85628158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557834560	chr14:85629002-85629003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537672421	chr14:85629013-85629014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549530628	chr14:85629032-85629033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs149745240	chr14:85629042-85629043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs2372845	chr14:85629060-85629061	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557915260	chr14:85629068-85629069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs573197341	chr14:85629085-85629086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs533892361	chr14:85629091-85629092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs7143105	chr14:85629094-85629095	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574347871	chr14:85629099-85629100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76133443	chr14:85629166-85629167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563051275	chr14:85629185-85629186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs371555641	chr14:85629218-85629219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs373622695	chr14:85629240-85629241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111367596	chr14:85629262-85629263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559952286	chr14:85629317-85629318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85624800-85625000	Enhancers	Pancreas	Pancrea
2	chr14:85627600-85628200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:85629000-85630400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:85631400-85632400	Enhancers	HUVEC	blood vessel
5	chr14:85631400-85632800	Enhancers	Adipose Nuclei	Adipose
6	chr14:85632400-85633400	Weak transcription	HUVEC	blood vessel
7	chr14:85633200-85634200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:85633400-85634400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:85633400-85634400	Enhancers	HUVEC	blood vessel
10	chr14:85633600-85634400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr14:85633600-85634400	Enhancers	Osteobl	bone
12	chr14:85634000-85634400	Enhancers	NHEK	skin
13	chr14:85634400-85638000	Weak transcription	NHEK	skin
14	chr14:85634400-85638200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:85635000-85635200	Enhancers	Fetal Brain Male	brain
16	chr14:85635200-85635600	Enhancers	Fetal Brain Female	brain
17	chr14:85635200-85636200	Weak transcription	Fetal Brain Male	brain
18	chr14:85635600-85636600	Weak transcription	Fetal Brain Female	brain
19	chr14:85636200-85637400	Enhancers	Fetal Brain Male	brain
20	chr14:85636600-85636800	Enhancers	Fetal Brain Female	brain
21	chr14:85637400-85638600	Weak transcription	Fetal Brain Male	brain
22	chr14:85637400-85639000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:85637800-85638800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:85638000-85639400	Enhancers	NHEK	skin
25	chr14:85638200-85638600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:85638400-85639000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:85638600-85639000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr14:85638600-85639000	Enhancers	Ovary	ovary
29	chr14:85638600-85639600	Enhancers	Fetal Brain Male	brain
30	chr14:85638600-85641200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:85638800-85640600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:85640600-85642600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:85641200-85642000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:85641200-85642200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:85641400-85642000	Enhancers	Osteobl	bone
36	chr14:85642200-85647200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:85643400-85646600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:85643600-85644200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr14:85643600-85645600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:85643600-85646200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr14:85643600-85646400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr14:85643800-85644000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:85643800-85645000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:85643800-85645000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:85644000-85644200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr14:85644000-85645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:85644200-85646400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr14:85645000-85645200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr14:85645000-85645200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr14:85645000-85645600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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