Variant report

Variant	nsv902145
Chromosome Location	chr14:83618392-83746190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
2	chr14:83730856..83733310-chr14:83737352..83738858,2	K562	blood:
3	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
4	chr14:83730856..83733310-chr14:83737352..83738858,2	K562	blood:

Extended variants
information (count: 2492 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2492 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7150247	chr14:83618392-83618393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149980435	chr14:83618393-83618394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546633743	chr14:83618409-83618410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115965619	chr14:83618420-83618421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552541989	chr14:83618435-83618436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145218892	chr14:83618444-83618445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114682431	chr14:83618451-83618452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184578442	chr14:83618531-83618532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188194554	chr14:83618557-83618558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374837605	chr14:83618562-83618563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556749708	chr14:83618570-83618571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558669112	chr14:83618582-83618583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2124849	chr14:83618598-83618599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570607844	chr14:83618633-83618634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2168617	chr14:83618645-83618646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552964653	chr14:83618657-83618658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148475751	chr14:83618658-83618659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542132559	chr14:83618693-83618694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557666457	chr14:83618698-83618699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180686235	chr14:83618711-83618712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540720635	chr14:83618870-83618871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142726391	chr14:83618878-83618879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564235766	chr14:83618933-83618934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184154423	chr14:83618956-83618957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189529401	chr14:83618979-83618980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561710534	chr14:83619029-83619030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369928666	chr14:83619043-83619044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529309875	chr14:83619196-83619197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146476684	chr14:83619220-83619221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141031784	chr14:83619237-83619238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77702455	chr14:83619318-83619319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552354357	chr14:83619347-83619348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144637009	chr14:83619388-83619389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575364884	chr14:83619423-83619424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534672721	chr14:83619430-83619431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543640939	chr14:83619431-83619432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146692492	chr14:83619458-83619459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78222027	chr14:83619511-83619512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577269535	chr14:83619530-83619531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34068488	chr14:83619533-83619534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374993569	chr14:83619535-83619536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140245104	chr14:83619559-83619560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150291707	chr14:83619584-83619585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575942470	chr14:83619628-83619629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539744716	chr14:83619794-83619795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182114490	chr14:83619823-83619824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557886443	chr14:83619828-83619829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372759213	chr14:83619861-83619862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186656122	chr14:83619882-83619883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114114868	chr14:83619929-83619930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83614000-83619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:83618000-83619400	Enhancers	Fetal Brain Female	brain
3	chr14:83619200-83619600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:83619600-83621200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:83621200-83621600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:83621600-83629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:83624800-83625200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:83628200-83629200	Enhancers	Aorta	Aorta
9	chr14:83628600-83632000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:83628800-83629000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:83628800-83630000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:83629000-83629200	Enhancers	NHDF-Ad	bronchial
13	chr14:83629000-83629400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:83629000-83629600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:83629000-83629800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:83629000-83630400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:83629000-83631200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:83629200-83630000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr14:83629200-83630000	Enhancers	NH-A	brain
20	chr14:83629200-83630000	Weak transcription	NHDF-Ad	bronchial
21	chr14:83629400-83631000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:83629600-83629800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:83629600-83630200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:83630000-83630200	Enhancers	NHDF-Ad	bronchial
25	chr14:83630000-83631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:83630000-83631000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:83630000-83635200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:83630200-83631000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:83630200-83631000	Weak transcription	NHDF-Ad	bronchial
30	chr14:83630400-83630800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:83630800-83631000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:83631000-83631400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:83631000-83631400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:83631000-83631800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:83631000-83632000	Enhancers	NHDF-Ad	bronchial
36	chr14:83631000-83633000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:83631000-83638600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:83631200-83634200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:83633000-83638200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:83634200-83634600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:83634600-83636400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:83635200-83635600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:83636400-83636600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:83636400-83637000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:83636600-83636800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:83637000-83638600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:83638200-83638800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:83638200-83639600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:83638600-83639000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:83638600-83639000	Enhancers	NHDF-Ad	bronchial

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