Variant report

Variant	esv3370420
Chromosome Location	chr14:69734099-69738497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69726732..69729091-chr14:69733725..69735919,2	MCF-7	breast:
2	chr14:69709484..69712204-chr14:69733458..69735206,2	K562	blood:
3	chr14:69722264..69724602-chr14:69732414..69735196,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100626	chromatin interactions
ENSG00000258520	chromatin interactions

Extended variants
information (count: 189 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554960512	chr14:69734123-69734124	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs189326978	chr14:69734164-69734165	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs374702239	chr14:69734180-69734181	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181991801	chr14:69734181-69734182	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186528785	chr14:69734198-69734199	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs144332653	chr14:69734245-69734246	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535031894	chr14:69734258-69734259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553598859	chr14:69734296-69734297	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11844858	chr14:69734300-69734301	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111842978	chr14:69734317-69734318	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190971291	chr14:69734338-69734339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375050101	chr14:69734383-69734384	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs117525075	chr14:69734414-69734415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575326653	chr14:69734415-69734416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543248469	chr14:69734485-69734486	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1890939	chr14:69734498-69734499	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371940737	chr14:69734506-69734507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529049688	chr14:69734531-69734532	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs181037499	chr14:69734549-69734550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs148779059	chr14:69734552-69734553	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs144902246	chr14:69734576-69734577	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs147948897	chr14:69734584-69734585	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569798654	chr14:69734599-69734600	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs73290563	chr14:69734600-69734601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549036826	chr14:69734602-69734603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567781520	chr14:69734614-69734615	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs144155169	chr14:69734691-69734692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553395865	chr14:69734698-69734699	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs186553780	chr14:69734799-69734800	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs151156006	chr14:69734812-69734813	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs556921466	chr14:69734915-69734916	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs575206928	chr14:69734926-69734927	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542769571	chr14:69734973-69734974	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140190730	chr14:69734977-69734978	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539368256	chr14:69735009-69735010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs573756409	chr14:69735014-69735015	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs541216221	chr14:69735093-69735094	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs191208444	chr14:69735185-69735186	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs79906298	chr14:69735192-69735193	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs545047922	chr14:69735198-69735199	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs182749148	chr14:69735277-69735278	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556296517	chr14:69735287-69735288	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs114166390	chr14:69735322-69735323	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs567309650	chr14:69735376-69735377	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143602210	chr14:69735390-69735391	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs528727155	chr14:69735412-69735413	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547164236	chr14:69735424-69735425	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs185935433	chr14:69735426-69735427	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs190602307	chr14:69735475-69735476	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs150333373	chr14:69735489-69735490	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	22522925	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69729000-69737600	Weak transcription	Spleen	Spleen
2	chr14:69729200-69734400	Weak transcription	Fetal Heart	heart
3	chr14:69729200-69737600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:69729400-69736000	Enhancers	Fetal Intestine Large	intestine
5	chr14:69729400-69737800	Weak transcription	Fetal Brain Female	brain
6	chr14:69729600-69736000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:69730600-69735800	Weak transcription	Fetal Brain Male	brain
8	chr14:69730800-69735200	Weak transcription	NH-A	brain
9	chr14:69730800-69740200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:69730800-69754000	Weak transcription	Brain Anterior Caudate	brain
11	chr14:69731000-69734600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:69731000-69737600	Weak transcription	Adipose Nuclei	Adipose
13	chr14:69731200-69734200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:69731200-69734200	Weak transcription	HSMM	muscle
15	chr14:69731200-69734200	Weak transcription	NHLF	lung
16	chr14:69731200-69734200	Weak transcription	Osteobl	bone
17	chr14:69731200-69734600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:69731800-69738400	Enhancers	Right Ventricle	heart
19	chr14:69732400-69734400	Weak transcription	Right Atrium	heart
20	chr14:69732400-69735800	Enhancers	Fetal Intestine Small	intestine
21	chr14:69733000-69736400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:69733000-69748000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:69733200-69738400	Enhancers	Left Ventricle	heart
24	chr14:69733400-69736800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:69733600-69734800	Enhancers	NHDF-Ad	bronchial
26	chr14:69734000-69735200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:69734000-69736000	Enhancers	HSMMtube	muscle
28	chr14:69734000-69736600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:69734200-69735800	Enhancers	HSMM	muscle
30	chr14:69734200-69736200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:69734200-69736400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:69734200-69736400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:69734200-69736400	Enhancers	NHEK	skin
34	chr14:69734200-69736400	Enhancers	Osteobl	bone
35	chr14:69734200-69736600	Enhancers	NHLF	lung
36	chr14:69734400-69736200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:69734400-69736200	Enhancers	Fetal Heart	heart
38	chr14:69734400-69736200	Enhancers	Right Atrium	heart
39	chr14:69734400-69736400	Enhancers	HMEC	breast
40	chr14:69734600-69736000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:69734600-69736000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:69734600-69736400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:69734600-69736400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:69734800-69735000	Flanking Active TSS	NHDF-Ad	bronchial
45	chr14:69735000-69735400	Enhancers	NHDF-Ad	bronchial
46	chr14:69735200-69735800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:69735200-69736200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr14:69735200-69736200	Enhancers	HUVEC	blood vessel
49	chr14:69735200-69736200	Enhancers	NH-A	brain
50	chr14:69735400-69736400	Flanking Active TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links