Variant report

Variant	esv3365410
Chromosome Location	chr14:64558621-64559112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64552289..64554602-chr14:64557723..64560400,2	K562	blood:
2	chr14:64558552..64561429-chr14:64564076..64565793,2	MCF-7	breast:
3	chr14:64547416..64549627-chr14:64558968..64561021,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78234319	chr14:64558635-64558636	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557645129	chr14:64558688-64558689	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577486165	chr14:64558699-64558700	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568346830	chr14:64558729-64558730	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs17101640	chr14:64558781-64558782	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74055918	chr14:64558806-64558807	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573298426	chr14:64558808-64558809	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550678823	chr14:64558823-64558824	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114599171	chr14:64558863-64558864	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562173308	chr14:64558883-64558884	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531121416	chr14:64558912-64558913	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570649326	chr14:64558946-64558947	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544784723	chr14:64558953-64558954	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190501749	chr14:64558961-64558962	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533624520	chr14:64558990-64558991	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140765703	chr14:64559019-64559020	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182399783	chr14:64559075-64559076	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
3	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
4	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
6	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:64528000-64567400	Weak transcription	Fetal Heart	heart
9	chr14:64529400-64566800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:64542800-64574000	Weak transcription	HUVEC	blood vessel
11	chr14:64542800-64575400	Weak transcription	Hela-S3	cervix
12	chr14:64543000-64576400	Weak transcription	NHDF-Ad	bronchial
13	chr14:64544000-64616200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr14:64547000-64573800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:64548400-64590800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:64548600-64564800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:64548800-64562400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:64549600-64564000	Weak transcription	Right Ventricle	heart
19	chr14:64549600-64564200	Weak transcription	Colonic Mucosa	Colon
20	chr14:64549800-64563600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:64549800-64564200	Weak transcription	Esophagus	oesophagus
22	chr14:64549800-64564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:64549800-64564600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:64549800-64564600	Weak transcription	Spleen	Spleen
25	chr14:64549800-64570200	Weak transcription	Psoas Muscle	Psoas
26	chr14:64549800-64579800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:64550000-64562400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:64550400-64559200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:64550400-64562000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:64550400-64563000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:64550400-64565000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:64551600-64564800	Weak transcription	Primary B cells from cord blood	blood
33	chr14:64551800-64563400	Weak transcription	Brain Germinal Matrix	brain
34	chr14:64551800-64568200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:64552800-64562200	Weak transcription	HSMM	muscle
36	chr14:64554000-64566400	Strong transcription	Dnd41	blood
37	chr14:64554000-64566600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:64554200-64560800	Strong transcription	Placenta	Placenta
39	chr14:64554200-64566600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:64554400-64566600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:64554400-64576400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:64554600-64561800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:64555000-64566400	Strong transcription	Primary T cells from cord blood	blood
44	chr14:64555800-64564600	Weak transcription	Liver	Liver
45	chr14:64556400-64560600	Strong transcription	GM12878-XiMat	blood
46	chr14:64556400-64563800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:64556400-64566400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:64556600-64560600	Strong transcription	Left Ventricle	heart
49	chr14:64556600-64560800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:64556600-64561400	Strong transcription	Fetal Muscle Leg	muscle

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