Variant report

Variant	esv3363315
Chromosome Location	chr14:65216799-65218847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65217187..65219069-chr14:65219788..65222108,2	MCF-7	breast:
2	chr14:65205002..65209276-chr14:65218300..65221160,3	MCF-7	breast:
3	chr14:65212044..65214816-chr14:65217541..65219717,2	MCF-7	breast:
4	chr14:65218834..65220355-chr21:9827173..9828803,2	MCF-7	breast:
5	chr14:65207536..65209508-chr14:65217159..65219849,2	K562	blood:
6	chr14:65147226..65148769-chr14:65215008..65216811,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126822	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139355550	chr14:65216802-65216803	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373143524	chr14:65216851-65216852	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376298140	chr14:65216879-65216880	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199738056	chr14:65216884-65216885	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370729401	chr14:65216895-65216896	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368210977	chr14:65216906-65216907	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566655274	chr14:65216913-65216914	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535703867	chr14:65216939-65216940	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77740829	chr14:65216961-65216962	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569119196	chr14:65216966-65216967	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552251818	chr14:65217001-65217002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139814875	chr14:65217065-65217066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199595407	chr14:65217071-65217072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557206769	chr14:65217085-65217086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571062654	chr14:65217088-65217089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137923877	chr14:65217098-65217099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75350199	chr14:65217099-65217100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577236087	chr14:65217233-65217234	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574905405	chr14:65217265-65217266	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553883504	chr14:65217268-65217269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573210674	chr14:65217269-65217270	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542161002	chr14:65217273-65217274	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537046361	chr14:65217292-65217293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183973606	chr14:65217309-65217310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573937952	chr14:65217351-65217352	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112132108	chr14:65217359-65217360	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562043350	chr14:65217408-65217409	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188578268	chr14:65217409-65217410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527364131	chr14:65217428-65217429	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544777765	chr14:65217433-65217434	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376130391	chr14:65217442-65217443	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532994648	chr14:65217458-65217459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546285182	chr14:65217519-65217520	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576495074	chr14:65217551-65217552	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143509164	chr14:65217670-65217671	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35981317	chr14:65217671-65217672	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs3063774	chr14:65217672-65217673	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34784286	chr14:65217673-65217674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566501006	chr14:65217678-65217679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577063420	chr14:65217719-65217720	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548276402	chr14:65217735-65217736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549325746	chr14:65217742-65217743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147174210	chr14:65217784-65217785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs140081010	chr14:65217800-65217801	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201817523	chr14:65217829-65217830	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs78332528	chr14:65217836-65217837	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200192844	chr14:65217840-65217841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2357777	chr14:65217898-65217899	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111764716	chr14:65217923-65217924	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374524900	chr14:65217962-65217963	Weak transcription Strong transcription	Chromatin interactive region	1 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:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65201000-65221800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:65202200-65217400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:65203800-65216800	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr14:65204000-65217200	Strong transcription	NHEK	skin
5	chr14:65204200-65216800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:65204200-65217400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:65204400-65217000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:65204600-65216800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:65204600-65219800	Strong transcription	Fetal Intestine Small	intestine
10	chr14:65205400-65216800	Strong transcription	Esophagus	oesophagus
11	chr14:65208600-65219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:65208600-65222400	Weak transcription	Stomach Mucosa	stomach
13	chr14:65209800-65223600	Weak transcription	Psoas Muscle	Psoas
14	chr14:65211200-65217400	Strong transcription	Fetal Intestine Large	intestine
15	chr14:65211200-65219000	Weak transcription	Small Intestine	intestine
16	chr14:65211200-65228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:65212000-65224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:65212400-65217400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:65212600-65217000	Strong transcription	A549	lung
20	chr14:65212800-65218800	Weak transcription	Brain Germinal Matrix	brain
21	chr14:65212800-65224200	Weak transcription	Aorta	Aorta
22	chr14:65213000-65217000	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr14:65213200-65217400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:65213400-65217600	Strong transcription	Fetal Stomach	stomach
25	chr14:65213400-65218200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:65213600-65217000	Strong transcription	Placenta	Placenta
27	chr14:65213600-65218200	Weak transcription	Lung	lung
28	chr14:65213600-65219600	Strong transcription	HMEC	breast
29	chr14:65213800-65217000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:65213800-65217200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:65213800-65219000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:65213800-65222200	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:65214000-65216800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:65214000-65217400	Strong transcription	Fetal Muscle Leg	muscle
35	chr14:65214000-65220200	Weak transcription	Adipose Nuclei	Adipose
36	chr14:65214000-65221600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:65214000-65223600	Weak transcription	Right Atrium	heart
38	chr14:65214200-65216800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:65214200-65217400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:65214200-65221200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:65214200-65224800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:65214400-65216800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:65214400-65217000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr14:65214400-65218600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:65214400-65218800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:65214400-65224200	Weak transcription	Fetal Lung	lung
47	chr14:65214400-65224400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:65214400-65224600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:65214400-65224600	Weak transcription	Fetal Kidney	kidney
50	chr14:65214600-65218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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