Variant report

Variant	esv1172624
Chromosome Location	chr14:104650820-104650835
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104644034..104647829-chr14:104648059..104652639,5	MCF-7	breast:
2	chr14:104632447..104634396-chr14:104650392..104653194,2	K562	blood:
3	chr14:104649230..104653061-chr14:104657794..104660199,5	MCF-7	breast:
4	chr14:104643343..104645021-chr14:104648909..104651142,2	K562	blood:
5	chr14:104602083..104606800-chr14:104649678..104656936,9	MCF-7	breast:
6	chr14:104637508..104640421-chr14:104649656..104651711,3	MCF-7	breast:
7	chr14:104649534..104651729-chr14:104660798..104662472,2	MCF-7	breast:
8	chr14:104622500..104624420-chr14:104650489..104652508,2	K562	blood:
9	chr14:104650176..104652362-chr14:104808842..104810389,2	MCF-7	breast:
10	chr14:104648873..104651309-chr14:104652979..104655035,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066735	chromatin interactions
ENSG00000258748	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 97 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375675142	chr14:104650821-104650822	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104642000-104652400	Weak transcription	Pancreas	Pancrea
2	chr14:104643800-104662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104644600-104652600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:104644800-104651000	Weak transcription	Spleen	Spleen
5	chr14:104645000-104652600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:104645400-104655000	Weak transcription	Gastric	stomach
7	chr14:104646600-104651200	Weak transcription	Fetal Intestine Small	intestine
8	chr14:104647600-104651000	Weak transcription	Fetal Lung	lung
9	chr14:104648200-104651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:104648200-104655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:104648400-104651000	Weak transcription	Fetal Stomach	stomach
12	chr14:104648400-104654400	Weak transcription	Brain Germinal Matrix	brain
13	chr14:104649000-104651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:104649400-104652800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr14:104649600-104651600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr14:104649800-104651400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr14:104649800-104651800	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr14:104649800-104651800	Enhancers	Right Ventricle	heart
19	chr14:104650000-104651600	Enhancers	Lung	lung
20	chr14:104650200-104651400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:104650200-104652600	Enhancers	Fetal Muscle Leg	muscle
22	chr14:104650400-104651800	Bivalent Enhancer	Placenta	Placenta
23	chr14:104650600-104651000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr14:104650600-104651400	Enhancers	Esophagus	oesophagus
25	chr14:104650600-104651600	Enhancers	Fetal Heart	heart
26	chr14:104650600-104651800	Enhancers	Left Ventricle	heart
27	chr14:104650600-104652800	Enhancers	HUVEC	blood vessel
28	chr14:104650800-104651400	Enhancers	Right Atrium	heart
29	chr14:104650800-104651600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:104650800-104651800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:104650800-104651800	Enhancers	Hela-S3	cervix
32	chr14:104650800-104652000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:104650800-104653000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links