Variant report

Variant	esv3443734
Chromosome Location	chr14:65137049-65139247
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65137974..65138524-chr14:65212266..65213004,2	MCF-7	breast:
2	chr14:65138142..65139183-chr14:65231179..65232405,5	MCF-7	breast:
3	chr14:64973577..64975906-chr14:65136944..65139422,2	MCF-7	breast:
4	chr14:65138681..65140469-chr14:65181895..65183745,2	MCF-7	breast:
5	chr14:65137937..65138882-chr14:65212182..65213063,6	MCF-7	breast:
6	chr14:65137759..65138752-chr14:65228203..65228779,2	MCF-7	breast:
7	chr14:65128230..65131121-chr14:65136317..65138576,2	K562	blood:
8	chr14:65138592..65140467-chr14:65210995..65212825,2	MCF-7	breast:
9	chr14:65138116..65138837-chr14:65266518..65267321,3	MCF-7	breast:
10	chr14:65137874..65140791-chr14:65142432..65144848,2	K562	blood:
11	chr14:65137982..65138853-chr14:65229263..65230220,2	MCF-7	breast:
12	chr14:65137892..65138874-chr14:65266647..65267635,2	MCF-7	breast:
13	chr14:65138393..65141206-chr14:65169744..65173083,3	MCF-7	breast:
14	chr14:64969252..64972831-chr14:65136872..65138614,3	K562	blood:
15	chr14:65135349..65138709-chr14:65145103..65149484,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000126804	chromatin interactions
ENSG00000126822	chromatin interactions
ENSG00000089775	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35571438	chr14:65137067-65137068	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs35596988	chr14:65137069-65137070	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533424945	chr14:65137082-65137083	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs142310438	chr14:65137171-65137172	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566903051	chr14:65137180-65137181	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539835409	chr14:65137192-65137193	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs570244143	chr14:65137218-65137219	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575483995	chr14:65137224-65137225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538811671	chr14:65137232-65137233	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs181143522	chr14:65137233-65137234	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186456341	chr14:65137298-65137299	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs151280314	chr14:65137314-65137315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs76377123	chr14:65137378-65137379	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs139229514	chr14:65137431-65137432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189360906	chr14:65137470-65137471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181006120	chr14:65137474-65137475	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533938127	chr14:65137491-65137492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs1950302	chr14:65137508-65137509	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs11846264	chr14:65137541-65137542	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs556581707	chr14:65137563-65137564	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs115867600	chr14:65137600-65137601	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs562462287	chr14:65137625-65137626	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575895523	chr14:65137630-65137631	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs80072662	chr14:65137631-65137632	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186399321	chr14:65137645-65137646	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs527491738	chr14:65137656-65137657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs369624545	chr14:65137685-65137686	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs117799990	chr14:65137686-65137687	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs373927029	chr14:65137687-65137688	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs145356252	chr14:65137695-65137696	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs147639482	chr14:65137762-65137763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs112763419	chr14:65137772-65137773	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs67572168	chr14:65137839-65137840	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549364641	chr14:65137840-65137841	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs200060574	chr14:65137853-65137854	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200883055	chr14:65137854-65137855	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs56212099	chr14:65137884-65137885	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs56405983	chr14:65137886-65137887	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75138198	chr14:65137906-65137907	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199772425	chr14:65137916-65137917	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs398025421	chr14:65137933-65137934	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs376906549	chr14:65137943-65137944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201696619	chr14:65137962-65137963	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200361928	chr14:65137986-65137987	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs72268000	chr14:65137995-65137996	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201390139	chr14:65138045-65138046	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs369191776	chr14:65138067-65138068	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs71939099	chr14:65138078-65138079	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs71123874	chr14:65138086-65138087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs200868197	chr14:65138097-65138098	Weak transcription	Chromatin interactive region	2 gene(s)	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65127600-65139800	Weak transcription	Esophagus	oesophagus
2	chr14:65130400-65138600	Weak transcription	HMEC	breast
3	chr14:65130400-65139800	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:65130600-65139600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:65133400-65139800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:65134000-65138400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:65134000-65140200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:65135400-65149200	Weak transcription	Aorta	Aorta
9	chr14:65136200-65138200	Weak transcription	Fetal Intestine Small	intestine
10	chr14:65136200-65138400	Weak transcription	Stomach Mucosa	stomach
11	chr14:65136200-65138600	Weak transcription	A549	lung
12	chr14:65137200-65139000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:65138200-65138800	Enhancers	Fetal Intestine Small	intestine
14	chr14:65138200-65138800	Enhancers	Fetal Kidney	kidney
15	chr14:65138400-65138600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:65138400-65138600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr14:65138400-65138600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:65138400-65138600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr14:65138400-65138600	Enhancers	Placenta	Placenta
20	chr14:65138400-65138600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr14:65138400-65138600	Enhancers	Stomach Mucosa	stomach
22	chr14:65138400-65138600	Enhancers	Hela-S3	cervix
23	chr14:65138400-65138800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:65138400-65138800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:65138400-65138800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr14:65138400-65138800	Enhancers	Adipose Nuclei	Adipose
27	chr14:65138400-65138800	Enhancers	Liver	Liver
28	chr14:65138400-65138800	Enhancers	Brain Angular Gyrus	brain
29	chr14:65138400-65138800	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:65138400-65138800	Enhancers	Brain Hippocampus Middle	brain
31	chr14:65138400-65138800	Enhancers	Brain Substantia Nigra	brain
32	chr14:65138400-65138800	Enhancers	Fetal Intestine Large	intestine
33	chr14:65138400-65138800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr14:65138400-65138800	Enhancers	HepG2	liver
35	chr14:65138400-65139000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:65138400-65139000	Enhancers	Primary B cells from cord blood	blood
37	chr14:65138400-65139800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr14:65138400-65140200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:65138400-65140200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:65138400-65140800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:65138400-65141000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr14:65138400-65141200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:65138400-65141400	Enhancers	Primary T cells from cord blood	blood
44	chr14:65138400-65141400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:65138400-65141400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr14:65138400-65141600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:65138400-65144000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr14:65138600-65138800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr14:65138600-65138800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr14:65138600-65138800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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