Variant report

Variant	esv15289
Chromosome Location	chr14:80900600-80939903
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:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:80924960..80926463-chr14:80928354..80930711,2	MCF-7	breast:
2	chr14:80924960..80926463-chr14:80928354..80930711,2	MCF-7	breast:
3	chr14:80913917..80916409-chr14:80918301..80920954,2	MCF-7	breast:
4	chr14:80913917..80916409-chr14:80918301..80920954,2	MCF-7	breast:
5	chr14:80916725..80918586-chr14:80920062..80922896,2	MCF-7	breast:
6	chr14:80916725..80918586-chr14:80920062..80922896,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN3-2	chr14:80921471-80921812	ENSG00000258766.1
2	lnc-TSHR-3	chr14:80931126-80931299	XLOC_010884
3	lnc-NRXN3-2	chr14:80921471-80921810	ENSG00000249517
4	lnc-TSHR-3	chr14:80938203-80938379	XLOC_010884

No data

Extended variants
information (count: 1518 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531754219	chr14:80900600-80900601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113562995	chr14:80900633-80900634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183585480	chr14:80900674-80900675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189035480	chr14:80900687-80900688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112412392	chr14:80900732-80900733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193098523	chr14:80900770-80900771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184276896	chr14:80900782-80900783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566192808	chr14:80900807-80900808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188213474	chr14:80900812-80900813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561918524	chr14:80900813-80900814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539426419	chr14:80900835-80900836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143903510	chr14:80900857-80900858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566980095	chr14:80900893-80900894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537544786	chr14:80900899-80900900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71416839	chr14:80900915-80900916	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577776879	chr14:80900916-80900917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538861176	chr14:80900944-80900945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148607740	chr14:80900969-80900970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61991561	chr14:80901028-80901029	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs35330846	chr14:80901065-80901066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141667954	chr14:80901081-80901082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76957579	chr14:80901116-80901117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139713919	chr14:80901141-80901142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183901183	chr14:80901146-80901147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565445946	chr14:80901158-80901159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188680223	chr14:80901175-80901176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547614295	chr14:80901202-80901203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533252388	chr14:80901298-80901299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144349635	chr14:80901311-80901312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530335130	chr14:80901354-80901355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114200596	chr14:80901363-80901364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201982023	chr14:80901369-80901370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386779214	chr14:80901370-80901371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs66998580	chr14:80901371-80901372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs398099494	chr14:80901373-80901374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537911289	chr14:80901391-80901392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151088822	chr14:80901401-80901402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113953616	chr14:80901459-80901460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115530363	chr14:80901461-80901462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549273290	chr14:80901502-80901503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140029787	chr14:80901512-80901513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149846742	chr14:80901545-80901546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564470322	chr14:80901682-80901683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536553650	chr14:80901727-80901728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186968373	chr14:80901730-80901731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576377008	chr14:80901763-80901764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117061600	chr14:80901765-80901766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543836725	chr14:80901770-80901771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565214942	chr14:80901781-80901782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145722785	chr14:80901783-80901784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80893000-80900800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:80894400-80905600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:80896000-80902000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:80900400-80901600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr14:80900600-80901400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:80900600-80901600	Enhancers	A549	lung
7	chr14:80900600-80902000	Enhancers	HMEC	breast
8	chr14:80900800-80901200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:80900800-80901400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr14:80900800-80901800	Enhancers	Hela-S3	cervix
11	chr14:80900800-80902000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:80900800-80902000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:80900800-80902000	Enhancers	NHEK	skin
14	chr14:80901000-80901800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr14:80901000-80901800	Enhancers	Esophagus	oesophagus
16	chr14:80901200-80901600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:80901200-80901600	Enhancers	Stomach Mucosa	stomach
18	chr14:80902000-80913400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:80905600-80905800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:80905800-80916800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:80911800-80912400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr14:80912000-80912400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr14:80912000-80912400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:80912000-80912400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:80912000-80912600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr14:80912000-80912600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:80912200-80912400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr14:80912200-80912600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:80912200-80912600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr14:80912200-80912600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:80912200-80914400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:80912400-80913800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:80912600-80912800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:80912600-80913400	Enhancers	NHDF-Ad	bronchial
35	chr14:80913400-80914000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:80915200-80919400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:80916800-80917400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:80919400-80920000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:80919800-80921600	Weak transcription	HSMM	muscle
40	chr14:80920000-80921200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:80920400-80920600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr14:80920600-80921200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:80921200-80921400	Enhancers	Psoas Muscle	Psoas
44	chr14:80921200-80923800	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr14:80921200-80925200	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr14:80921400-80921800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:80921400-80921800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr14:80921400-80921800	Active TSS	Fetal Muscle Trunk	muscle
49	chr14:80921400-80921800	Flanking Active TSS	Psoas Muscle	Psoas
50	chr14:80921600-80922000	Active TSS	HSMMtube	muscle

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