Variant report

Variant	nsv542148
Chromosome Location	chr14:83532477-83904217
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
2	chr14:82456729..82457343-chr14:83537985..83538492,2	MCF-7	breast:
3	chr14:83766556..83767082-chr14:83929752..83930344,2	MCF-7	breast:
4	chr14:83766559..83767404-chr14:85597812..85598521,2	MCF-7	breast:
5	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
6	chr14:82176321..82177178-chr14:83538011..83538873,2	MCF-7	breast:
7	chr14:83856666..83859609-chr14:83873675..83876629,2	K562	blood:
8	chr14:83176409..83177253-chr14:83537916..83538885,7	MCF-7	breast:
9	chr14:83836384..83839426-chr14:83840437..83842390,3	K562	blood:
10	chr14:83766531..83767077-chr14:85994611..85995139,2	MCF-7	breast:
11	chr14:83730856..83733310-chr14:83737352..83738858,2	K562	blood:
12	chr14:83730856..83733310-chr14:83737352..83738858,2	K562	blood:
13	chr14:82457970..82458550-chr14:83538022..83538739,2	MCF-7	breast:
14	chr14:83846964..83847609-chr9:125714705..125715642,2	MCF-7	breast:
15	chr14:83856666..83859609-chr14:83873675..83876629,2	K562	blood:
16	chr14:83836384..83839426-chr14:83840437..83842390,3	K562	blood:
17	chr14:83176300..83176864-chr14:83537974..83538513,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258945	chromatin interactions

Extended variants
information (count: 6153 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:6153 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10149865	chr14:83533025-83533026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562053759	chr14:83533094-83533095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569201149	chr14:83533109-83533110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529280760	chr14:83533119-83533120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550746475	chr14:83533124-83533125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17117913	chr14:83533130-83533131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147787341	chr14:83533161-83533162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188213366	chr14:83533164-83533165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139547348	chr14:83533197-83533198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570613707	chr14:83533216-83533217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534525554	chr14:83533240-83533241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546665508	chr14:83533245-83533246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10484142	chr14:83533289-83533290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556570819	chr14:83533320-83533321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142587639	chr14:83533322-83533323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72705639	chr14:83533361-83533362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558035949	chr14:83533390-83533391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534411924	chr14:83533396-83533397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550586992	chr14:83545425-83545426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562360849	chr14:83545447-83545448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546079956	chr14:83545455-83545456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533649556	chr14:83545506-83545507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551791778	chr14:83545521-83545522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72705664	chr14:83545528-83545529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10148989	chr14:83545536-83545537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374872110	chr14:83545555-83545556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549625125	chr14:83545560-83545561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567792495	chr14:83545627-83545628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183601809	chr14:83545679-83545680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80091787	chr14:83545685-83545686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571552337	chr14:83545696-83545697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187201392	chr14:83545754-83545755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148254552	chr14:83545759-83545760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28488247	chr14:83549823-83549824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10151460	chr14:83549825-83549826	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575658720	chr14:83549826-83549827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376724367	chr14:83549834-83549835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80125582	chr14:83549842-83549843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200663092	chr14:83549867-83549868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10151529	chr14:83549880-83549881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs77738441	chr14:83549888-83549889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141566808	chr14:83549890-83549891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559732504	chr14:83549900-83549901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370170424	chr14:83549929-83549930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193201385	chr14:83549938-83549939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28471037	chr14:83549940-83549941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549004519	chr14:83549948-83549949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184991133	chr14:83549999-83550000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189364155	chr14:83550027-83550028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192368989	chr14:83550028-83550029	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83533000-83533400	Enhancers	Fetal Heart	heart
2	chr14:83545400-83545800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:83549800-83550200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:83550200-83551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:83551000-83552800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:83551200-83551600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:83551200-83552400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:83551600-83552000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:83551600-83553000	Enhancers	Primary hematopoietic stem cells	blood
10	chr14:83551600-83553200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:83551800-83552400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:83551800-83552600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:83552000-83552600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr14:83552000-83552800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:83552000-83553000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:83552200-83552600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:83558000-83558400	Enhancers	Fetal Lung	lung
18	chr14:83558200-83558400	Enhancers	Fetal Heart	heart
19	chr14:83558400-83558600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:83558400-83558600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr14:83558400-83559000	Active TSS	Right Ventricle	heart
22	chr14:83558600-83558800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:83558600-83559000	Active TSS	Right Atrium	heart
24	chr14:83558600-83559200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:83562200-83563200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:83562600-83563000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:83565200-83565400	Enhancers	Aorta	Aorta
28	chr14:83565400-83567200	Weak transcription	Aorta	Aorta
29	chr14:83567200-83567400	Enhancers	Aorta	Aorta
30	chr14:83573600-83575000	Enhancers	Brain Germinal Matrix	brain
31	chr14:83583400-83583800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:83590800-83592200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:83591000-83591800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:83591000-83592000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr14:83591200-83591400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:83591200-83591800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:83591200-83592000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:83591200-83592400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:83591200-83593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:83591400-83591800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:83591400-83593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:83592600-83592800	Enhancers	Fetal Brain Male	brain
43	chr14:83592800-83595400	Weak transcription	Fetal Brain Male	brain
44	chr14:83593600-83593800	Enhancers	Fetal Brain Female	brain
45	chr14:83593600-83599000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:83593800-83594400	Enhancers	Fetal Kidney	kidney
47	chr14:83593800-83594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:83593800-83594600	Weak transcription	Fetal Brain Female	brain
49	chr14:83594600-83595600	Enhancers	Fetal Brain Female	brain
50	chr14:83594600-83598800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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