Variant report

Variant	esv3419249
Chromosome Location	chr14:105752218-105752408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105747798..105750064-chr14:105752369..105754411,2	K562	blood:
2	chr14:105747048..105750064-chr14:105752369..105754773,3	K562	blood:
3	chr14:105750774..105752528-chr9:37798618..37800986,2	MCF-7	breast:
4	chr14:105751940..105753785-chr14:105781330..105783374,2	MCF-7	breast:
5	chr14:105750078..105754137-chr14:105766184..105768818,3	K562	blood:

Variant related genes	Relation type
ENSG00000179364	chromatin interactions
ENSG00000122741	chromatin interactions
ENSG00000107371	chromatin interactions
ENSG00000185024	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587735908	chr14:105752233-105752234	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs587615267	chr14:105752248-105752249	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs587694905	chr14:105752254-105752255	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs587727824	chr14:105752285-105752286	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs190759410	chr14:105752400-105752401	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs3825762	chr14:105752404-105752405	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	20369283	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105715800-105766000	Weak transcription	Fetal Kidney	kidney
2	chr14:105721800-105759800	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:105722000-105760600	Weak transcription	NH-A	brain
4	chr14:105724200-105758600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:105729200-105754200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:105731200-105759000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:105738200-105752400	Weak transcription	Fetal Intestine Large	intestine
8	chr14:105739200-105759000	Weak transcription	Brain Germinal Matrix	brain
9	chr14:105739800-105753400	Weak transcription	Esophagus	oesophagus
10	chr14:105739800-105765800	Weak transcription	NHEK	skin
11	chr14:105741600-105759000	Weak transcription	Small Intestine	intestine
12	chr14:105742000-105753200	Weak transcription	Right Ventricle	heart
13	chr14:105742200-105765600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:105742200-105765800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:105742400-105760400	Weak transcription	Osteobl	bone
16	chr14:105744600-105757000	Weak transcription	Psoas Muscle	Psoas
17	chr14:105744600-105766000	Weak transcription	HSMMtube	muscle
18	chr14:105745400-105754000	Strong transcription	Fetal Intestine Small	intestine
19	chr14:105745400-105760600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:105747000-105757000	Weak transcription	Thymus	Thymus
21	chr14:105747000-105765600	Weak transcription	Colonic Mucosa	Colon
22	chr14:105747000-105766000	Weak transcription	Aorta	Aorta
23	chr14:105747200-105765600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:105748200-105757000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:105748200-105760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:105748200-105765800	Weak transcription	HMEC	breast
27	chr14:105748400-105759600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:105748600-105752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:105748600-105754000	Strong transcription	Fetal Muscle Leg	muscle
30	chr14:105748600-105765800	Weak transcription	A549	lung
31	chr14:105748800-105760400	Weak transcription	Fetal Lung	lung
32	chr14:105749400-105752600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:105749400-105752800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:105749400-105753200	Strong transcription	Fetal Stomach	stomach
35	chr14:105749600-105752400	Strong transcription	HepG2	liver
36	chr14:105749600-105760200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:105749600-105766200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:105749800-105752400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:105749800-105752600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:105750000-105752600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:105750000-105752600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr14:105750000-105754000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:105750000-105754400	Enhancers	Adipose Nuclei	Adipose
44	chr14:105750000-105760000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:105750200-105752800	Strong transcription	Fetal Brain Female	brain
46	chr14:105750200-105754400	Enhancers	Liver	Liver
47	chr14:105750400-105754200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:105750600-105752600	Genic enhancers	Brain Hippocampus Middle	brain
49	chr14:105750600-105752800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:105750600-105753000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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