Variant report

Variant	nsv518793
Chromosome Location	chr14:69329149-69331653
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69329812..69331555-chr14:69556654..69558817,2	MCF-7	breast:
2	chr14:69320313..69321172-chr14:69330016..69330572,2	MCF-7	breast:
3	chr14:69329644..69330252-chr14:69557067..69557578,2	MCF-7	breast:
4	chr14:69329657..69330621-chr14:69573875..69574825,6	K562	blood:
5	chr14:69330048..69330654-chr14:69573975..69574613,3	MCF-7	breast:
6	chr14:69329871..69332801-chr14:69360773..69363561,2	MCF-7	breast:
7	chr14:69328564..69331067-chr14:69432444..69435410,2	MCF-7	breast:
8	chr14:69329747..69330587-chr14:69556670..69557251,2	K562	blood:
9	chr14:69329912..69330674-chr14:69556659..69557561,2	MCF-7	breast:
10	chr14:69329734..69330494-chr14:69567678..69568621,2	MCF-7	breast:
11	chr14:69329739..69330530-chr14:69829017..69829987,2	K562	blood:

No data

Extended variants
information (count: 95 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1742501	chr14:69329149-69329150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549362902	chr14:69329249-69329250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565303409	chr14:69329252-69329253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183902448	chr14:69329309-69329310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142085769	chr14:69329316-69329317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188794372	chr14:69329379-69329380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565865511	chr14:69329416-69329417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539283506	chr14:69329441-69329442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35990686	chr14:69329488-69329489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192580731	chr14:69329491-69329492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78974734	chr14:69329510-69329511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556831682	chr14:69329511-69329512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4048624	chr14:69329516-69329517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79983956	chr14:69329529-69329530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75792030	chr14:69329531-69329532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77244269	chr14:69329533-69329534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569581943	chr14:69329547-69329548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116945134	chr14:69329552-69329553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375693885	chr14:69329566-69329567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370080	chr14:69329567-69329568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573563476	chr14:69329674-69329675	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534704095	chr14:69329688-69329689	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs440317	chr14:69329839-69329840	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs578107113	chr14:69329851-69329852	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545650400	chr14:69329889-69329890	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1742500	chr14:69329901-69329902	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs575980508	chr14:69329916-69329917	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1742499	chr14:69330005-69330006	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147431089	chr14:69330057-69330058	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs8011657	chr14:69330061-69330062	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547050146	chr14:69330114-69330115	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565271931	chr14:69330141-69330142	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572423228	chr14:69330145-69330146	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532656572	chr14:69330201-69330202	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551135653	chr14:69330214-69330215	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139773307	chr14:69330215-69330216	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145329474	chr14:69330222-69330223	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs453964	chr14:69330235-69330236	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs567249624	chr14:69330267-69330268	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111228744	chr14:69330285-69330286	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148736566	chr14:69330298-69330299	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571219250	chr14:69330322-69330323	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199922872	chr14:69330339-69330340	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577190798	chr14:69330365-69330366	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56094757	chr14:69330366-69330367	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199613552	chr14:69330371-69330372	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12435776	chr14:69330372-69330373	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142322401	chr14:69330404-69330405	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372077289	chr14:69330408-69330409	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11626969	chr14:69330412-69330413	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69306400-69331200	Weak transcription	Aorta	Aorta
2	chr14:69307800-69331000	Weak transcription	HSMMtube	muscle
3	chr14:69310800-69331000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:69310800-69332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:69310800-69332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:69310800-69336400	Weak transcription	NHLF	lung
7	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
8	chr14:69311000-69331000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:69312000-69332000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:69320000-69331000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:69320600-69334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:69320800-69332200	Weak transcription	NHEK	skin
13	chr14:69321000-69329800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:69321200-69332200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:69321200-69338000	Weak transcription	Gastric	stomach
16	chr14:69321400-69330800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:69322400-69331000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:69322400-69336600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:69322600-69329600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:69322600-69330800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:69322600-69331200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:69323400-69331200	Weak transcription	Fetal Stomach	stomach
23	chr14:69323800-69337800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:69324800-69338600	Weak transcription	HepG2	liver
25	chr14:69325000-69331200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr14:69325200-69331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:69326000-69329600	Weak transcription	Fetal Intestine Small	intestine
28	chr14:69327600-69332200	Weak transcription	Liver	Liver
29	chr14:69327800-69331000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:69328000-69329600	Weak transcription	Placenta	Placenta
31	chr14:69328000-69334000	Weak transcription	NH-A	brain
32	chr14:69328200-69336600	Weak transcription	HMEC	breast
33	chr14:69328600-69331200	Weak transcription	Osteobl	bone
34	chr14:69328800-69336200	Weak transcription	HSMM	muscle
35	chr14:69329600-69330000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr14:69329600-69330000	Enhancers	Fetal Heart	heart
37	chr14:69329600-69330000	Enhancers	Fetal Intestine Small	intestine
38	chr14:69329600-69330200	Enhancers	Placenta	Placenta
39	chr14:69329600-69330200	Enhancers	Hela-S3	cervix
40	chr14:69329600-69332400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:69329600-69338200	Weak transcription	Pancreas	Pancrea
42	chr14:69329800-69330000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:69329800-69330000	Enhancers	Brain Angular Gyrus	brain
44	chr14:69329800-69330000	Enhancers	A549	lung
45	chr14:69329800-69330200	Enhancers	K562	blood
46	chr14:69329800-69331600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:69330000-69330200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:69330000-69330200	Enhancers	HUVEC	blood vessel
49	chr14:69330000-69332000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:69330000-69332200	Weak transcription	A549	lung

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