Variant report

Variant	nsv902155
Chromosome Location	chr14:83798324-83856947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:83856666..83859609-chr14:83873675..83876629,2	K562	blood:
2	chr14:83836384..83839426-chr14:83840437..83842390,3	K562	blood:
3	chr14:83836384..83839426-chr14:83840437..83842390,3	K562	blood:
4	chr14:83846964..83847609-chr9:125714705..125715642,2	MCF-7	breast:

Extended variants
information (count: 438 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572089681	chr14:83799600-83799601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72691309	chr14:83799602-83799603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569444053	chr14:83799699-83799700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35390962	chr14:83799704-83799705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528204780	chr14:83799726-83799727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139500391	chr14:83799734-83799735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182592921	chr14:83799773-83799774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375989565	chr14:83799777-83799778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185520061	chr14:83799803-83799804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532570670	chr14:83799805-83799806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17118445	chr14:83799830-83799831	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548325560	chr14:83799852-83799853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143284847	chr14:83799855-83799856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530190276	chr14:83799871-83799872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548652264	chr14:83799916-83799917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570023814	chr14:83799921-83799922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116919048	chr14:83799967-83799968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372616060	chr14:83800037-83800038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571433345	chr14:83800054-83800055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538490674	chr14:83800086-83800087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553908782	chr14:83800209-83800210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572092991	chr14:83800268-83800269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535932676	chr14:83800269-83800270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554153466	chr14:83800273-83800274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575586588	chr14:83800345-83800346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543730786	chr14:83800347-83800348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567028647	chr14:83800386-83800387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1158221	chr14:83802411-83802412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557597408	chr14:83802415-83802416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs162667	chr14:83802422-83802423	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs17625929	chr14:83802464-83802465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558198400	chr14:83802518-83802519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367959566	chr14:83802621-83802622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143824993	chr14:83802742-83802743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548833857	chr14:83802777-83802778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571245297	chr14:83802792-83802793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561745405	chr14:83802813-83802814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11849366	chr14:83802816-83802817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs162666	chr14:83802828-83802829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191697840	chr14:83802863-83802864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569190616	chr14:83802868-83802869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530693617	chr14:83802917-83802918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552068923	chr14:83802932-83802933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs8009587	chr14:83802939-83802940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11627413	chr14:83802964-83802965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368730540	chr14:83803011-83803012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73368860	chr14:83803021-83803022	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs77230343	chr14:83803022-83803023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149541886	chr14:83803032-83803033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568558238	chr14:83803073-83803074	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21364760	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83799600-83800200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:83799600-83800400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr14:83800000-83800400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:83802400-83803200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:83808800-83809200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:83809000-83809400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:83814000-83814800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:83814200-83814600	Enhancers	HSMM	muscle
9	chr14:83814200-83815000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr14:83820600-83825000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:83822400-83823200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:83823600-83823800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:83827200-83828000	Enhancers	Ovary	ovary
14	chr14:83834600-83835200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:83834800-83835200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:83844800-83846400	Enhancers	Fetal Stomach	stomach
17	chr14:83845000-83846600	Enhancers	Fetal Lung	lung
18	chr14:83845600-83846200	Enhancers	Rectal Smooth Muscle	rectum
19	chr14:83845600-83846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:83845600-83846400	Enhancers	Adipose Nuclei	Adipose
21	chr14:83845600-83846600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:83845800-83846400	Enhancers	Fetal Brain Female	brain
23	chr14:83845800-83846600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:83845800-83846800	Enhancers	Brain Germinal Matrix	brain

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