Variant report

Variant	esv992816
Chromosome Location	chr14:65678629-65686596
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:8)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65672466..65675216-chr14:65679164..65681633,2	MCF-7	breast:
2	chr14:65685682..65688470-chr14:65691307..65693933,2	MCF-7	breast:
3	chr14:65682951..65699539-chr14:65874873..65882779,51	MCF-7	breast:
4	chr14:65681059..65683272-chr14:65691597..65694149,3	MCF-7	breast:
5	chr14:65677692..65679763-chr14:65878183..65880174,3	MCF-7	breast:
6	chr14:65685385..65700060-chr14:65874568..65884730,76	MCF-7	breast:
7	chr14:65681195..65684359-chr14:65877909..65881383,4	MCF-7	breast:
8	chr14:65684066..65685787-chr14:65691739..65693406,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-1	chr14:65684419-65684508	XLOC_011053
2	lnc-MAX-1	chr14:65685225-65685413	XLOC_011053
3	lnc-MAX-1	chr14:65679612-65680644	XLOC_011053
4	lnc-MAX-1	chr14:65685225-65685413	ENSG00000255002
5	lnc-MAX-1	chr14:65679611-65680644	ENSG00000255002
6	lnc-MAX-1	chr14:65684419-65684508	ENSG00000255002

No data

Variant related genes	Relation type
ENSG00000033170	chromatin interactions

Extended variants
information (count: 293 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11294879	chr14:65678675-65678676	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11392570	chr14:65678744-65678745	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs67547771	chr14:65678745-65678746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558320748	chr14:65678814-65678815	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571817787	chr14:65678817-65678818	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571160362	chr14:65678828-65678829	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141178967	chr14:65678858-65678859	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143501645	chr14:65678877-65678878	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558310898	chr14:65678882-65678883	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs578137688	chr14:65678887-65678888	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540878169	chr14:65678933-65678934	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371761318	chr14:65678948-65678949	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574054791	chr14:65678963-65678964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147971184	chr14:65678973-65678974	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11847670	chr14:65678987-65678988	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531809163	chr14:65679057-65679058	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12895805	chr14:65679068-65679069	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141640864	chr14:65679092-65679093	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12895824	chr14:65679109-65679110	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150476916	chr14:65679113-65679114	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527504232	chr14:65679154-65679155	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547243000	chr14:65679180-65679181	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs72712419	chr14:65679193-65679194	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535813682	chr14:65679232-65679233	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75482437	chr14:65679268-65679269	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569579206	chr14:65679281-65679282	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538716434	chr14:65679286-65679287	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541768413	chr14:65679301-65679302	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558375528	chr14:65679308-65679309	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs55633216	chr14:65679328-65679329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs28557069	chr14:65679407-65679408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11847858	chr14:65679423-65679424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs60510419	chr14:65679434-65679435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537211138	chr14:65679435-65679436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187576982	chr14:65679443-65679444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576400858	chr14:65679510-65679511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545444914	chr14:65679525-65679526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565237211	chr14:65679541-65679542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192672387	chr14:65679621-65679622	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs140131417	chr14:65679652-65679653	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs560785313	chr14:65679661-65679662	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs149366491	chr14:65679734-65679735	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs58250564	chr14:65679765-65679766	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569590865	chr14:65679768-65679769	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs79870537	chr14:65679796-65679797	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs368384110	chr14:65679827-65679828	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs60089704	chr14:65679840-65679841	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs398057177	chr14:65679842-65679843	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs552219286	chr14:65679919-65679920	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs532147630	chr14:65679933-65679934	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65671600-65678800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr14:65671800-65678800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:65672200-65681400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:65672800-65691400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:65674000-65678800	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:65674000-65678800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:65674000-65680000	Enhancers	Dnd41	blood
8	chr14:65674000-65691400	Weak transcription	Thymus	Thymus
9	chr14:65675600-65680800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:65675600-65681400	Weak transcription	Spleen	Spleen
11	chr14:65675600-65687000	Weak transcription	Fetal Intestine Small	intestine
12	chr14:65675800-65687000	Weak transcription	Fetal Intestine Large	intestine
13	chr14:65676400-65678800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:65676600-65678800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:65676600-65678800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr14:65676600-65678800	Enhancers	HUVEC	blood vessel
17	chr14:65676800-65678800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:65676800-65678800	Enhancers	HMEC	breast
19	chr14:65677000-65678800	Enhancers	Hela-S3	cervix
20	chr14:65677000-65678800	Enhancers	NHDF-Ad	bronchial
21	chr14:65677000-65678800	Enhancers	NHLF	lung
22	chr14:65677200-65681400	Weak transcription	Right Atrium	heart
23	chr14:65677200-65683200	Weak transcription	Brain Germinal Matrix	brain
24	chr14:65677400-65678800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:65677600-65683200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:65678200-65678800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:65678400-65678800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:65678400-65678800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:65678400-65679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:65678400-65683800	Weak transcription	GM12878-XiMat	blood
31	chr14:65678600-65678800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:65678600-65678800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:65678600-65678800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr14:65678600-65678800	Weak transcription	HepG2	liver
35	chr14:65678600-65679800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:65678600-65679800	Weak transcription	Osteobl	bone
37	chr14:65678600-65681400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:65678600-65681600	Weak transcription	Brain Anterior Caudate	brain
39	chr14:65678600-65681600	Weak transcription	Brain Substantia Nigra	brain
40	chr14:65678600-65681800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:65678600-65683200	Weak transcription	Brain Angular Gyrus	brain
42	chr14:65678600-65683400	Weak transcription	Brain Hippocampus Middle	brain
43	chr14:65678600-65683600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:65678600-65690600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr14:65678800-65679200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr14:65678800-65679800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:65678800-65679800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:65678800-65679800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:65678800-65680800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:65678800-65681800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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