Variant report

Variant	nsv902152
Chromosome Location	chr14:83758398-83888443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:83766556..83767082-chr14:83929752..83930344,2	MCF-7	breast:
2	chr14:83856666..83859609-chr14:83873675..83876629,2	K562	blood:
3	chr14:83856666..83859609-chr14:83873675..83876629,2	K562	blood:
4	chr14:83766531..83767077-chr14:85994611..85995139,2	MCF-7	breast:
5	chr14:83836384..83839426-chr14:83840437..83842390,3	K562	blood:
6	chr14:83766559..83767404-chr14:85597812..85598521,2	MCF-7	breast:
7	chr14:83846964..83847609-chr9:125714705..125715642,2	MCF-7	breast:
8	chr14:83836384..83839426-chr14:83840437..83842390,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258945	chromatin interactions

Extended variants
information (count: 1583 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1583 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17118326	chr14:83758398-83758399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571577684	chr14:83758432-83758433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539017919	chr14:83758452-83758453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557805522	chr14:83758475-83758476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182748819	chr14:83758477-83758478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185847783	chr14:83758499-83758500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150557470	chr14:83758513-83758514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145219695	chr14:83758514-83758515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190307335	chr14:83758566-83758567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555110528	chr14:83758622-83758623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111807680	chr14:83758629-83758630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573488008	chr14:83758650-83758651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367590593	chr14:83758715-83758716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544004051	chr14:83758738-83758739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562602583	chr14:83758770-83758771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115264707	chr14:83758792-83758793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567865317	chr14:83758808-83758809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375460761	chr14:83758811-83758812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35747297	chr14:83758815-83758816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544949000	chr14:83758842-83758843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530284451	chr14:83758845-83758846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116266189	chr14:83758891-83758892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560770312	chr14:83758919-83758920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527961237	chr14:83758945-83758946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182530548	chr14:83758964-83758965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561499990	chr14:83758989-83758990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531910048	chr14:83759051-83759052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550050539	chr14:83759077-83759078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72689697	chr14:83759081-83759082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560284539	chr14:83759153-83759154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538660582	chr14:83759200-83759201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527337527	chr14:83759210-83759211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547360867	chr14:83759217-83759218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566447415	chr14:83759287-83759288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555427357	chr14:83759297-83759298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552135261	chr14:83759304-83759305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574284299	chr14:83759314-83759315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149731876	chr14:83759329-83759330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7342488	chr14:83759334-83759335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538036170	chr14:83759408-83759409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555996394	chr14:83759458-83759459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577619110	chr14:83759481-83759482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544698931	chr14:83759488-83759489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541327971	chr14:83759499-83759500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192118976	chr14:83759517-83759518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75278549	chr14:83759522-83759523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145502466	chr14:83759540-83759541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369735862	chr14:83759551-83759552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184034697	chr14:83759589-83759590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550306563	chr14:83759590-83759591	Weak transcription	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83755800-83758800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:83757000-83758600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr14:83757200-83760800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:83760800-83762200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:83761000-83761800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr14:83761000-83761800	Enhancers	HSMM	muscle
7	chr14:83761000-83762200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:83761200-83761800	Enhancers	NH-A	brain
9	chr14:83761400-83761800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:83761600-83762200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:83761800-83766800	Weak transcription	HSMM	muscle
12	chr14:83762200-83766600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:83762600-83762800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:83766600-83767400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:83766800-83767200	Enhancers	HSMM	muscle
16	chr14:83766800-83768600	Enhancers	Fetal Brain Female	brain
17	chr14:83766800-83769000	Enhancers	Fetal Brain Male	brain
18	chr14:83767200-83768400	Weak transcription	HSMM	muscle
19	chr14:83767400-83768800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:83767600-83768600	Enhancers	Brain Germinal Matrix	brain
21	chr14:83768000-83768600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:83768400-83768600	Enhancers	HSMM	muscle
23	chr14:83772600-83773600	Enhancers	Hela-S3	cervix
24	chr14:83772600-83773800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:83773400-83773600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:83773600-83775000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:83773800-83775200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:83775000-83776200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:83775200-83776200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:83776200-83777400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:83777400-83778000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:83778200-83779000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:83778400-83779000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr14:83778400-83779200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr14:83778600-83779000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:83782800-83783000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr14:83783200-83784200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr14:83784200-83784800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr14:83784200-83785200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr14:83784400-83784800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:83784400-83785200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr14:83784400-83785400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr14:83784400-83785400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr14:83784800-83785200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr14:83784800-83785200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:83787000-83787400	Enhancers	HSMM	muscle
47	chr14:83793400-83795800	Enhancers	Primary hematopoietic stem cells	blood
48	chr14:83793800-83794800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:83794000-83795000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr14:83794400-83794600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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