Variant report

Variant	nsv84333
Chromosome Location	chr14:78121071-78121204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:78121154-78121229	NHEK	skin:	n/a	n/a
2	CTCF	chr14:78121140-78121201	Gliobla	brain:	n/a	n/a
3	CTCF	chr14:78121057-78121267	GM19239	blood:	n/a	n/a
4	CTCF	chr14:78121170-78121225	Fibrobl	skin:	n/a	n/a
5	CTCF	chr14:78121000-78121150	BJ	skin:	n/a	n/a
6	CTCF	chr14:78121159-78121851	MCF-7	breast:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
7	CTCF	chr14:78121131-78121280	GM12891	blood:	n/a	n/a
8	CTCF	chr14:78121181-78121208	GM19240	blood:	n/a	n/a
9	CTCF	chr14:78121000-78121150	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr14:78120931-78121947	SK-N-SH	brain:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
11	CTCF	chr14:78121128-78121266	GM19238	blood:	n/a	n/a
12	CTCF	chr14:78121141-78121266	GM12892	blood:	n/a	n/a
13	CTCF	chr14:78121197-78121711	K562	blood:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
14	CTCF	chr14:78121120-78121270	AG10803	skin:	n/a	n/a
15	CTCF	chr14:78121140-78121290	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr14:78121197-78121808	A549	lung:	n/a	chr14:78121501-78121522 chr14:78121504-78121512 chr14:78121499-78121517
17	FOXM1	chr14:78121198-78121716	GM12878	blood:	n/a	n/a
18	MAZ	chr14:78121188-78121634	HepG2	liver:	n/a	n/a
19	NFIC	chr14:78121008-78121689	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr14:78120979-78121814	H1-neurons	neurons:	n/a	n/a
21	RAD21	chr14:78120928-78122101	SK-N-SH	brain:	n/a	chr14:78121500-78121519
22	RAD21	chr14:78121157-78121938	MCF-7	breast:	n/a	chr14:78121500-78121519
23	RAD21	chr14:78121072-78121987	HCT-116	colon:	n/a	chr14:78121500-78121519
24	RAD21	chr14:78121143-78121870	HCT-116	colon:	n/a	chr14:78121500-78121519
25	REST	chr14:78120095-78121098	H1-neurons	neurons:	n/a	n/a
26	REST	chr14:78121119-78122188	H1-neurons	neurons:	n/a	n/a
27	SMC3	chr14:78120952-78121887	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:78121069..78121988-chr14:78173226..78174334,8	MCF-7	breast:
2	chr14:78083002..78083811-chr14:78120998..78121918,2	MCF-7	breast:
3	chr14:78116603..78122891-chr14:78172785..78176058,7	MCF-7	breast:
4	chr14:78121033..78121732-chr14:78283460..78284088,3	MCF-7	breast:

Variant related genes	Relation type
COX6CP11	TF binding region
ENSG00000119705	chromatin interactions
ENSG00000100596	chromatin interactions
ENSG00000100601	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531586830	chr14:78121079-78121080	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs565155456	chr14:78121098-78121099	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs61990853	chr14:78121099-78121100	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2364582	chr14:78121114-78121115	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs535197750	chr14:78121141-78121142	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs28672093	chr14:78121170-78121171	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs573486101	chr14:78121204-78121205	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78119600-78122000	Enhancers	Pancreas	Pancrea
2	chr14:78119600-78123200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr14:78119800-78121200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:78119800-78121400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:78119800-78121800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:78119800-78122000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:78119800-78122000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:78119800-78125400	Enhancers	Adipose Nuclei	Adipose
11	chr14:78120000-78121400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:78120000-78121800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:78120000-78121800	Enhancers	Primary B cells from cord blood	blood
14	chr14:78120000-78121800	Enhancers	Duodenum Mucosa	Duodenum
15	chr14:78120000-78122000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr14:78120000-78122000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:78120000-78122000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr14:78120000-78122000	Enhancers	Fetal Intestine Large	intestine
19	chr14:78120000-78122200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:78120200-78121200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:78120200-78121400	Enhancers	Brain Hippocampus Middle	brain
22	chr14:78120200-78121800	Enhancers	Brain Anterior Caudate	brain
23	chr14:78120200-78121800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr14:78120200-78122000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr14:78120200-78122000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:78120200-78127600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:78120400-78121400	Enhancers	Fetal Brain Male	brain
28	chr14:78120400-78121600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:78120400-78121800	Enhancers	Gastric	stomach
30	chr14:78120400-78122000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:78120600-78121800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:78120600-78121800	Enhancers	Stomach Mucosa	stomach
33	chr14:78120600-78121800	Flanking Active TSS	HepG2	liver
34	chr14:78120600-78122000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:78120600-78123800	Enhancers	Spleen	Spleen
36	chr14:78120600-78126200	Weak transcription	Fetal Brain Female	brain
37	chr14:78120600-78126800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr14:78120600-78138200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:78120800-78121200	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:78120800-78121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:78120800-78121800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr14:78120800-78121800	Enhancers	K562	blood
43	chr14:78120800-78124600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr14:78121000-78121400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:78121000-78121400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:78121000-78121800	Enhancers	Brain Substantia Nigra	brain
47	chr14:78121000-78122000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr14:78121000-78122000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:78121000-78122200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr14:78121200-78121400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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