Variant report

Variant	nsv71581
Chromosome Location	chr14:105682160-105682161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:105682002-105682424	GM19239	blood:	n/a	n/a
2	MYC	chr14:105681997-105682160	GM12878	blood:	n/a	n/a
3	MYC	chr14:105682117-105682391	MCF-7	breast:	n/a	n/a
4	MYC	chr14:105682074-105682420	MCF-7	breast:	n/a	n/a
5	NR2C2	chr14:105681533-105682317	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:105682016-105682222	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:105681645-105682622	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:105682010-105682358	A549	lung:	n/a	n/a
9	POLR2A	chr14:105682102-105682342	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:105682077-105682211	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:105681628-105682498	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:105682105-105682351	A549	lung:	n/a	n/a
13	POLR2A	chr14:105682004-105682364	A549	lung:	n/a	n/a
14	POLR2A	chr14:105682117-105682198	Gliobla	brain:	n/a	n/a
15	POLR2A	chr14:105681568-105682552	GM12892	blood:	n/a	n/a
16	POLR2A	chr14:105681999-105682439	MCF-7	breast:	n/a	n/a
17	POLR2A	chr14:105681764-105682381	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr14:105682139-105682294	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:105682086-105682434	MCF-7	breast:	n/a	n/a
20	STAT5A	chr14:105681454-105682289	K562	blood:	n/a	n/a
21	SUZ12	chr14:105681486-105682524	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105671389..105673472-chr14:105681134..105682646,2	K562	blood:
2	chr14:105680829..105682565-chr14:105686561..105688543,2	MCF-7	breast:
3	chr14:105681198..105683564-chr14:105712338..105715416,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTBD6-3	chr14:105681490-105682260	NONHSAT040337

No data

Variant related genes	Relation type
BRF1	TF binding region
ENSG00000184887	chromatin interactions
ENSG00000185024	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 107 )

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	rs111206936	chr14:105682161-105682162	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	20369283	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105668200-105687200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr14:105668600-105683000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:105668600-105714200	Weak transcription	HUVEC	blood vessel
4	chr14:105668800-105683000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:105669800-105683400	Weak transcription	Fetal Thymus	thymus
6	chr14:105669800-105684800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:105669800-105691200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:105669800-105713800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:105671400-105697000	Weak transcription	Small Intestine	intestine
10	chr14:105671600-105683000	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:105671600-105689400	Weak transcription	NHEK	skin
12	chr14:105672200-105694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:105672400-105683200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:105672400-105687000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:105672400-105713200	Weak transcription	Osteobl	bone
16	chr14:105672600-105695600	Weak transcription	HMEC	breast
17	chr14:105673400-105690000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:105673600-105687400	Weak transcription	HepG2	liver
19	chr14:105673600-105713600	Weak transcription	Stomach Mucosa	stomach
20	chr14:105673800-105684800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:105673800-105689800	Weak transcription	Hela-S3	cervix
22	chr14:105674000-105696000	Strong transcription	Fetal Stomach	stomach
23	chr14:105674000-105698600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:105674200-105685600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:105674200-105687000	Weak transcription	Right Atrium	heart
26	chr14:105674200-105687200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:105674200-105695800	Strong transcription	Fetal Intestine Small	intestine
28	chr14:105674400-105683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:105674800-105687600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:105674800-105689600	Weak transcription	K562	blood
31	chr14:105674800-105694200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:105674800-105695400	Strong transcription	Fetal Brain Female	brain
33	chr14:105674800-105696000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:105675200-105687000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:105675200-105695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:105675400-105686400	Strong transcription	Right Ventricle	heart
37	chr14:105675400-105687000	Strong transcription	Gastric	stomach
38	chr14:105675400-105687000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr14:105675400-105687200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:105675400-105688400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:105675400-105693400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr14:105675400-105693800	Strong transcription	Primary T cells from cord blood	blood
43	chr14:105675400-105694200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:105675400-105694400	Strong transcription	Brain Germinal Matrix	brain
45	chr14:105675400-105695800	Strong transcription	Dnd41	blood
46	chr14:105675600-105695400	Strong transcription	Thymus	Thymus
47	chr14:105675600-105695600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:105675800-105690400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr14:105675800-105693200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:105676000-105682600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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