Variant report

Variant	esv3336448
Chromosome Location	chr14:21781791-21782291
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	CEBPB	chr14:21781767-21781966	HepG2	liver:	n/a	chr14:21781897-21781908
2	CEBPB	chr14:21781731-21782019	HepG2	liver:	n/a	chr14:21781897-21781908
3	CEBPB	chr14:21781762-21781982	HepG2	liver:	n/a	chr14:21781897-21781908
4	CEBPB	chr14:21781742-21782025	HepG2	liver:	n/a	chr14:21781897-21781908
5	HNF4A	chr14:21781752-21781974	HepG2	liver:	n/a	n/a
6	HNF4A	chr14:21781810-21781988	HepG2	liver:	n/a	n/a
7	HNF4G	chr14:21781752-21781978	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21776722..21779291-chr14:21780222..21782831,3	K562	blood:
2	chr14:21776722..21779782-chr14:21780222..21783756,4	K562	blood:
3	chr14:21729752..21732364-chr14:21780119..21782538,3	K562	blood:

Variant related genes	Relation type
RPGRIP1	TF binding region
ENSG00000092199	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 73 )

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	rs146711946	chr14:21781802-21781803	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs10140627	chr14:21781815-21781816	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559637424	chr14:21781838-21781839	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528542800	chr14:21781871-21781872	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs55785076	chr14:21781878-21781879	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562856149	chr14:21781898-21781899	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs551592660	chr14:21781903-21781904	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs55813206	chr14:21781944-21781945	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113356233	chr14:21781946-21781947	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs74697574	chr14:21781961-21781962	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571471890	chr14:21781984-21781985	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs578175167	chr14:21782017-21782018	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs537298482	chr14:21782104-21782105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537370710	chr14:21782213-21782214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10142653	chr14:21782241-21782242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569643244	chr14:21782250-21782251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371576541	chr14:21782252-21782253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ewing''s sarcoma	18628472	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21777600-21791400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:21777800-21787600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:21778000-21785400	Weak transcription	GM12878-XiMat	blood
4	chr14:21778000-21787600	Weak transcription	Primary B cells from cord blood	blood
5	chr14:21780200-21787600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:21780200-21787600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:21781000-21783400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:21781600-21781800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:21781600-21781800	Enhancers	Fetal Intestine Small	intestine
10	chr14:21781600-21782000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr14:21781600-21782000	Flanking Active TSS	HepG2	liver
12	chr14:21781600-21782000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr14:21781600-21782400	Enhancers	Fetal Intestine Large	intestine
14	chr14:21781800-21787600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:21782000-21783200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr14:21782000-21783400	Enhancers	HepG2	liver
17	chr14:21782000-21783400	Enhancers	Monocytes-CD14+_RO01746	blood

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