Variant report

Variant	nsv1037255
Chromosome Location	chr14:83638819-83814438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000258945	chromatin interactions

Extended variants
information (count: 3028 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3028 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531516085	chr14:83638819-83638820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549913900	chr14:83638872-83638873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184142918	chr14:83638884-83638885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532209054	chr14:83638941-83638942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547547136	chr14:83638961-83638962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565667447	chr14:83638972-83638973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146615726	chr14:83638986-83638987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554610106	chr14:83638987-83638988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188498421	chr14:83638994-83638995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11159573	chr14:83639025-83639026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565805927	chr14:83639029-83639030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10484151	chr14:83639047-83639048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544895506	chr14:83639065-83639066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369656283	chr14:83639102-83639103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577394381	chr14:83639167-83639168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541499218	chr14:83639212-83639213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553092544	chr14:83639217-83639218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140983312	chr14:83639218-83639219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546263052	chr14:83639231-83639232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199638872	chr14:83639244-83639245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs398099507	chr14:83639247-83639248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200361731	chr14:83639248-83639249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541779555	chr14:83639282-83639283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563356585	chr14:83639318-83639319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs8011589	chr14:83639372-83639373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149803159	chr14:83639378-83639379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531751764	chr14:83639379-83639380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61984583	chr14:83639402-83639403	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375511238	chr14:83639428-83639429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145695490	chr14:83639431-83639432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79872416	chr14:83639482-83639483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551389250	chr14:83639514-83639515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565731227	chr14:83639594-83639595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143163612	chr14:83639595-83639596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566304486	chr14:83655816-83655817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113253988	chr14:83655842-83655843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10873345	chr14:83655969-83655970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555833037	chr14:83655972-83655973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116913243	chr14:83656018-83656019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117743455	chr14:83656033-83656034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556771416	chr14:83656046-83656047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570629503	chr14:83656057-83656058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578157883	chr14:83656068-83656069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545135312	chr14:83656093-83656094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147311012	chr14:83656114-83656115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527446554	chr14:83656124-83656125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574507720	chr14:83656154-83656155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543001838	chr14:83656221-83656222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72689648	chr14:83656241-83656242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560467712	chr14:83656307-83656308	Enhancers	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:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83638200-83639600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:83638600-83639000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:83638600-83639000	Enhancers	NHDF-Ad	bronchial
4	chr14:83638600-83639400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:83655800-83656400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:83656200-83656800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr14:83661400-83661600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:83661600-83662200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr14:83662200-83663200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:83662400-83663200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr14:83662600-83663200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:83664600-83665200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:83666200-83666800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:83674000-83675000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:83674000-83675200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:83674400-83675000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr14:83674400-83675400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:83674800-83675000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:83675400-83676800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:83676800-83677000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:83683200-83685000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:83683400-83684000	Enhancers	Adipose Nuclei	Adipose
23	chr14:83683400-83684600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:83683600-83685000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:83684000-83684600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:83684200-83684600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:83685000-83686200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:83685800-83686800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr14:83686400-83686600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:83686600-83686800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:83687000-83692000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:83692000-83692200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:83692000-83692400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:83694200-83694600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr14:83694200-83694800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr14:83694400-83694800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:83694400-83696200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:83694400-83697400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr14:83694400-83698600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:83694600-83695800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:83694600-83696200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr14:83694800-83696000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:83694800-83696400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:83695800-83697400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:83696000-83697400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr14:83696200-83696600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr14:83696400-83697200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr14:83696600-83697200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr14:83697400-83698600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:83697400-83698600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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