Variant report

Variant	nsv528783
Chromosome Location	chr14:82128836-82146538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:82134770..82137572-chr20:47128262..47129981,2	MCF-7	breast:

Extended variants
information (count: 825 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2209890	chr14:82128836-82128837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559545712	chr14:82128854-82128855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111964602	chr14:82128899-82128900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542326248	chr14:82128900-82128901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6574674	chr14:82129033-82129034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34700980	chr14:82129048-82129049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138627153	chr14:82129085-82129086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543373709	chr14:82129090-82129091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12147736	chr14:82129091-82129092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532478120	chr14:82129105-82129106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574361714	chr14:82129117-82129118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148826490	chr14:82129128-82129129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565922776	chr14:82129136-82129137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529873795	chr14:82129142-82129143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548394669	chr14:82129184-82129185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570105723	chr14:82129199-82129200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537064499	chr14:82129209-82129210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112888324	chr14:82129214-82129215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112604848	chr14:82129218-82129219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535028392	chr14:82129230-82129231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146919052	chr14:82129255-82129256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566064572	chr14:82129264-82129265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574698930	chr14:82129271-82129272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570434053	chr14:82129272-82129273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58014970	chr14:82129278-82129279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112591605	chr14:82129288-82129289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117807231	chr14:82129318-82129319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576123239	chr14:82129327-82129328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189728596	chr14:82129333-82129334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564941822	chr14:82129379-82129380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138060771	chr14:82129421-82129422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376183240	chr14:82129432-82129433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556543068	chr14:82129451-82129452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375359682	chr14:82129457-82129458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559639799	chr14:82129462-82129463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529935205	chr14:82129470-82129471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548330816	chr14:82129514-82129515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56904100	chr14:82129520-82129521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375922377	chr14:82129521-82129522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142765112	chr14:82129522-82129523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397692015	chr14:82129538-82129539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569733874	chr14:82129560-82129561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531060290	chr14:82129604-82129605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143506338	chr14:82129680-82129681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182394029	chr14:82129681-82129682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9323708	chr14:82129715-82129716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534655292	chr14:82129793-82129794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553276275	chr14:82129827-82129828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537351810	chr14:82129830-82129831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555880499	chr14:82129918-82129919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82123800-82129000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr14:82126600-82135000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:82128400-82129200	Enhancers	Pancreas	Pancrea
4	chr14:82128600-82129200	Enhancers	Aorta	Aorta
5	chr14:82128800-82130000	Enhancers	Fetal Heart	heart
6	chr14:82128800-82130000	Enhancers	Left Ventricle	heart
7	chr14:82129000-82129800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:82135000-82135600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:82135200-82135800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:82135600-82137600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:82137600-82137800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:82137600-82137800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr14:82137600-82137800	Enhancers	Fetal Heart	heart
14	chr14:82137600-82137800	Enhancers	Ovary	ovary
15	chr14:82137800-82139600	Weak transcription	Fetal Heart	heart
16	chr14:82138000-82138200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:82139600-82141400	Enhancers	Fetal Heart	heart
18	chr14:82141400-82144200	Weak transcription	Fetal Heart	heart
19	chr14:82142600-82144000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:82143400-82144600	Enhancers	Spleen	Spleen
21	chr14:82144200-82144400	Enhancers	Fetal Heart	heart
22	chr14:82144400-82146600	Weak transcription	Fetal Heart	heart
23	chr14:82145800-82146600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:82146000-82146200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr14:82146000-82146200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr14:82146000-82146200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:82146000-82146400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:82146000-82146800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr14:82146000-82147200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr14:82146000-82148000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:82146200-82146400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr14:82146200-82146400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr14:82146200-82146600	Enhancers	Fetal Muscle Leg	muscle
34	chr14:82146200-82146600	Enhancers	Fetal Stomach	stomach
35	chr14:82146200-82147200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr14:82146200-82149200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr14:82146200-82149600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr14:82146400-82146600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr14:82146400-82148200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:82146400-82149000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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