Variant report

Variant	nsv520676
Chromosome Location	chr14:83593084-83599228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 257 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17692698	chr14:83593084-83593085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577907236	chr14:83593090-83593091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17619707	chr14:83593091-83593092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182271421	chr14:83593097-83593098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377086779	chr14:83593099-83593100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544017696	chr14:83593154-83593155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79845325	chr14:83593186-83593187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376663432	chr14:83593187-83593188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144470283	chr14:83593224-83593225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17619743	chr14:83593264-83593265	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187305648	chr14:83593335-83593336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568524582	chr14:83593364-83593365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530390930	chr14:83593365-83593366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112557840	chr14:83593393-83593394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530588456	chr14:83593394-83593395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571137761	chr14:83593409-83593410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191707806	chr14:83593458-83593459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548101804	chr14:83593519-83593520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543533972	chr14:83593538-83593539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547207895	chr14:83593539-83593540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17692781	chr14:83593575-83593576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536050270	chr14:83593662-83593663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557149513	chr14:83593719-83593720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184051759	chr14:83593806-83593807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547519588	chr14:83593807-83593808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374434204	chr14:83593824-83593825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17619785	chr14:83593839-83593840	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs144093118	chr14:83593862-83593863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368357857	chr14:83593897-83593898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576715850	chr14:83593907-83593908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540885242	chr14:83593957-83593958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559222669	chr14:83593969-83593970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574263101	chr14:83593971-83593972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542023195	chr14:83594005-83594006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145038667	chr14:83594008-83594009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533674819	chr14:83594029-83594030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530657023	chr14:83594067-83594068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551883105	chr14:83594082-83594083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564113042	chr14:83594111-83594112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552068496	chr14:83594112-83594113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528103407	chr14:83594121-83594122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74069105	chr14:83594125-83594126	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568794960	chr14:83594150-83594151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535642863	chr14:83594208-83594209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537668195	chr14:83594225-83594226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569232968	chr14:83594278-83594279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17692829	chr14:83594302-83594303	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557837304	chr14:83594307-83594308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149052897	chr14:83594331-83594332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75501543	chr14:83594360-83594361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83591200-83593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:83591400-83593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:83592800-83595400	Weak transcription	Fetal Brain Male	brain
4	chr14:83593600-83593800	Enhancers	Fetal Brain Female	brain
5	chr14:83593600-83599000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:83593800-83594400	Enhancers	Fetal Kidney	kidney
7	chr14:83593800-83594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:83593800-83594600	Weak transcription	Fetal Brain Female	brain
9	chr14:83594600-83595600	Enhancers	Fetal Brain Female	brain
10	chr14:83594600-83598800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:83595400-83596600	Enhancers	Fetal Brain Male	brain
12	chr14:83595600-83596000	Active TSS	Fetal Brain Female	brain
13	chr14:83596000-83596400	Enhancers	Fetal Brain Female	brain
14	chr14:83596400-83599000	Weak transcription	Fetal Brain Female	brain
15	chr14:83596600-83597000	Weak transcription	Fetal Brain Male	brain
16	chr14:83597000-83597600	Enhancers	Fetal Brain Male	brain
17	chr14:83597600-83599000	Weak transcription	Fetal Brain Male	brain
18	chr14:83598400-83598600	Enhancers	Brain Germinal Matrix	brain
19	chr14:83598800-83599200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:83598800-83600200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:83599000-83600600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr14:83599000-83601400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:83599000-83601600	Enhancers	Fetal Brain Male	brain
24	chr14:83599000-83601600	Enhancers	Fetal Brain Female	brain
25	chr14:83599200-83599400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:83599200-83599600	Enhancers	Aorta	Aorta
27	chr14:83599200-83601200	Enhancers	HUES64 Cell Line	embryonic stem cell

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