Variant report

Variant	nsv902157
Chromosome Location	chr14:84058209-84172323
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:84115488..84118207-chr14:84119783..84122747,2	MCF-7	breast:
2	chr14:84090467..84093303-chr14:84096212..84098076,2	MCF-7	breast:
3	chr14:84072524..84074854-chr14:84077932..84080700,2	MCF-7	breast:
4	chr14:84098036..84100982-chr14:84103908..84106262,4	MCF-7	breast:
5	chr14:84096941..84099822-chr14:84104524..84106875,3	MCF-7	breast:
6	chr14:84057068..84059935-chr14:84060399..84061913,2	MCF-7	breast:
7	chr14:84072524..84074854-chr14:84077932..84080700,2	MCF-7	breast:
8	chr14:84096941..84099822-chr14:84104524..84106875,3	MCF-7	breast:
9	chr14:84057068..84059935-chr14:84060399..84061913,2	MCF-7	breast:
10	chr14:84115488..84118207-chr14:84119783..84122747,2	MCF-7	breast:
11	chr14:84098036..84100982-chr14:84103908..84106262,4	MCF-7	breast:
12	chr14:84090467..84093303-chr14:84096212..84098076,2	MCF-7	breast:

No data

Extended variants
information (count: 1123 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1123 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576127847	chr14:84061201-84061202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs34789497	chr14:84061208-84061209	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543509082	chr14:84061214-84061215	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs10138233	chr14:84061240-84061241	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs80050830	chr14:84061271-84061272	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs191026789	chr14:84061291-84061292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs1241964	chr14:84061292-84061293	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs529919964	chr14:84061355-84061356	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112509441	chr14:84061370-84061371	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148099658	chr14:84061371-84061372	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs372832271	chr14:84061373-84061374	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs560915026	chr14:84061378-84061379	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573283167	chr14:84061429-84061430	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115927876	chr14:84061475-84061476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182416797	chr14:84061532-84061533	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs538798713	chr14:84061558-84061559	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185369584	chr14:84061580-84061581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77870204	chr14:84061586-84061587	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189735129	chr14:84061664-84061665	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs183284934	chr14:84061709-84061710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576066528	chr14:84061719-84061720	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs540308923	chr14:84061727-84061728	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542436245	chr14:84061765-84061766	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs558312554	chr14:84061779-84061780	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564944946	chr14:84061788-84061789	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76824452	chr14:84061864-84061865	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7158190	chr14:84061913-84061914	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs372830277	chr14:84061962-84061963	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576169332	chr14:84074042-84074043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543652801	chr14:84074045-84074046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78801271	chr14:84074079-84074080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185633435	chr14:84074112-84074113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188536930	chr14:84074115-84074116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs8022162	chr14:84074136-84074137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181634087	chr14:84074141-84074142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372020487	chr14:84074179-84074180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549224825	chr14:84074216-84074217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567801634	chr14:84074253-84074254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531808944	chr14:84074259-84074260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185811153	chr14:84074271-84074272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35376825	chr14:84074321-84074322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7160994	chr14:84074328-84074329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191718014	chr14:84074389-84074390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556079365	chr14:84074545-84074546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183888946	chr14:84074565-84074566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553776692	chr14:84074593-84074594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548054566	chr14:84076019-84076020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559784152	chr14:84076044-84076045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530456000	chr14:84076088-84076089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115551733	chr14:84076093-84076094	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
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84061200-84062000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:84074000-84074400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:84074200-84074600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:84076000-84076600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:84078400-84078600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr14:84086600-84086800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:84090400-84092000	Enhancers	Fetal Brain Male	brain
8	chr14:84090600-84090800	Enhancers	Fetal Brain Female	brain
9	chr14:84090800-84091200	Enhancers	Hela-S3	cervix
10	chr14:84090800-84091400	Weak transcription	Fetal Brain Female	brain
11	chr14:84091000-84091600	Active TSS	Fetal Kidney	kidney
12	chr14:84091000-84092000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr14:84091200-84091400	Active TSS	Ovary	ovary
14	chr14:84091200-84091400	Flanking Active TSS	Hela-S3	cervix
15	chr14:84091400-84091600	Flanking Active TSS	Ovary	ovary
16	chr14:84091400-84091800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:84091400-84091800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:84091400-84091800	Active TSS	Hela-S3	cervix
19	chr14:84091600-84091800	Enhancers	Fetal Brain Female	brain
20	chr14:84091600-84092000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr14:84092000-84092400	Weak transcription	Fetal Brain Male	brain
22	chr14:84092000-84092400	Enhancers	Hela-S3	cervix
23	chr14:84092400-84093200	Enhancers	Fetal Brain Male	brain
24	chr14:84098400-84099200	Enhancers	Fetal Brain Female	brain
25	chr14:84098600-84099200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:84098800-84099200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr14:84098800-84099200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr14:84098800-84099600	Enhancers	Fetal Brain Male	brain
29	chr14:84098800-84099800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:84099000-84099800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr14:84099200-84105200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:84099800-84101600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:84101800-84102000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr14:84101800-84102200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:84102200-84105000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:84104400-84105000	Enhancers	HepG2	liver
37	chr14:84105000-84105200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr14:84105000-84106000	Active TSS	HepG2	liver
39	chr14:84105200-84105400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
40	chr14:84105200-84105600	Active TSS	A549	lung
41	chr14:84105200-84106000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr14:84105200-84106200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr14:84105400-84106200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr14:84105600-84106000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr14:84112800-84113400	Enhancers	Fetal Stomach	stomach
46	chr14:84119200-84119600	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr14:84127200-84127600	Enhancers	Liver	Liver
48	chr14:84127400-84127600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:84127600-84131000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:84128800-84129000	Enhancers	HUES64 Cell Line	embryonic stem cell

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