Variant report

Variant	nsv1052933
Chromosome Location	chr14:83626090-83785690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:83766559..83767404-chr14:85597812..85598521,2	MCF-7	breast:
2	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
3	chr14:83766556..83767082-chr14:83929752..83930344,2	MCF-7	breast:
4	chr14:83766531..83767077-chr14:85994611..85995139,2	MCF-7	breast:
5	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
6	chr14:83730856..83733310-chr14:83737352..83738858,2	K562	blood:
7	chr14:83730856..83733310-chr14:83737352..83738858,2	K562	blood:

Variant related genes	Relation type
ENSG00000258945	chromatin interactions

Extended variants
information (count: 3288 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3288 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140714268	chr14:83626103-83626104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114444238	chr14:83626110-83626111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117043495	chr14:83626121-83626122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1263441	chr14:83626158-83626159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558546073	chr14:83626181-83626182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576928763	chr14:83626243-83626244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535307314	chr14:83626279-83626280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553663742	chr14:83626319-83626320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369344822	chr14:83626333-83626334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574925234	chr14:83626353-83626354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554756886	chr14:83626398-83626399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74069146	chr14:83626419-83626420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575295124	chr14:83626445-83626446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373572185	chr14:83626446-83626447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545910194	chr14:83626462-83626463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377667071	chr14:83626497-83626498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564114696	chr14:83626498-83626499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182860350	chr14:83626515-83626516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535144145	chr14:83626537-83626538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533963022	chr14:83626545-83626546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1263442	chr14:83626598-83626599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143502646	chr14:83626660-83626661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386779387	chr14:83626661-83626662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199928807	chr14:83626663-83626664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529844065	chr14:83626673-83626674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1263443	chr14:83626699-83626700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569874681	chr14:83626731-83626732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1263444	chr14:83626732-83626733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557075669	chr14:83626757-83626758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187888573	chr14:83626779-83626780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1263445	chr14:83626806-83626807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534653882	chr14:83626816-83626817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192404193	chr14:83626821-83626822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146885203	chr14:83626891-83626892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535782188	chr14:83626893-83626894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557097103	chr14:83626986-83626987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575453222	chr14:83627023-83627024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545868862	chr14:83627043-83627044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371645069	chr14:83627051-83627052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548584029	chr14:83627072-83627073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36029282	chr14:83627073-83627074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139336974	chr14:83627118-83627119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572895694	chr14:83627128-83627129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540672467	chr14:83627141-83627142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183939334	chr14:83627210-83627211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141905704	chr14:83627221-83627222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548204002	chr14:83627279-83627280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147082142	chr14:83627285-83627286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530755017	chr14:83627307-83627308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138290263	chr14:83627310-83627311	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:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83621600-83629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:83628200-83629200	Enhancers	Aorta	Aorta
3	chr14:83628600-83632000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:83628800-83629000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:83628800-83630000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:83629000-83629200	Enhancers	NHDF-Ad	bronchial
7	chr14:83629000-83629400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:83629000-83629600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:83629000-83629800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:83629000-83630400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:83629000-83631200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:83629200-83630000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:83629200-83630000	Enhancers	NH-A	brain
14	chr14:83629200-83630000	Weak transcription	NHDF-Ad	bronchial
15	chr14:83629400-83631000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:83629600-83629800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:83629600-83630200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:83630000-83630200	Enhancers	NHDF-Ad	bronchial
19	chr14:83630000-83631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:83630000-83631000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:83630000-83635200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:83630200-83631000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:83630200-83631000	Weak transcription	NHDF-Ad	bronchial
24	chr14:83630400-83630800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:83630800-83631000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:83631000-83631400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:83631000-83631400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:83631000-83631800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:83631000-83632000	Enhancers	NHDF-Ad	bronchial
30	chr14:83631000-83633000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:83631000-83638600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:83631200-83634200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:83633000-83638200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:83634200-83634600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:83634600-83636400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:83635200-83635600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr14:83636400-83636600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:83636400-83637000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:83636600-83636800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:83637000-83638600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:83638200-83638800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:83638200-83639600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:83638600-83639000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:83638600-83639000	Enhancers	NHDF-Ad	bronchial
45	chr14:83638600-83639400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:83655800-83656400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:83656200-83656800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr14:83661400-83661600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr14:83661600-83662200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr14:83662200-83663200	Enhancers	Primary monocytes fromperipheralblood	blood

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