Variant report

Variant	esv3321535
Chromosome Location	chr14:21702987-21703049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr14:21702185-21703013	HepG2	liver:	n/a	n/a
2	NFATC1	chr14:21702234-21706137	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:21702947-21703664	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:21702960-21703205	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr14:21697582-21719166	K562	blood:	n/a	n/a
6	POLR2A	chr14:21702999-21703004	K562	blood:	n/a	n/a
7	POLR2A	chr14:21702898-21703110	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:21701517-21703024	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr14:21701647-21703280	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:21701528-21721073	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:21701537-21706271	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:21702329-21706301	K562	blood:	n/a	n/a
13	POLR2A	chr14:21701639-21703495	A549	lung:	n/a	n/a
14	POLR2A	chr14:21702189-21703738	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:21696840-21721114	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21701373..21707828-chr14:21708039..21714266,10	K562	blood:
2	chr14:21701295..21703897-chr14:21842847..21844816,2	K562	blood:
3	chr14:21702152..21704976-chr14:21712747..21715545,2	MCF-7	breast:
4	chr14:21698449..21701323-chr14:21702052..21705538,3	MCF-7	breast:
5	chr14:21702039..21704805-chr14:21710008..21711834,2	MCF-7	breast:
6	chr14:21700872..21703141-chr14:21723886..21726612,2	K562	blood:
7	chr14:21694684..21697867-chr14:21700846..21706348,4	MCF-7	breast:

No data

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

Extended variants
information (count: 3 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11269714	chr14:21703001-21703002	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201763769	chr14:21703003-21703004	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371864137	chr14:21703034-21703035	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 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:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:21672400-21709000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:21672600-21703000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:21672800-21709000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:21672800-21725200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:21673200-21709200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:21673600-21706000	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr14:21677800-21727000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:21681000-21714000	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr14:21682400-21703400	Strong transcription	Fetal Muscle Leg	muscle
11	chr14:21684400-21705200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr14:21685800-21703400	Strong transcription	GM12878-XiMat	blood
13	chr14:21686400-21704400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:21687600-21706400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:21687600-21723200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:21688200-21712800	Strong transcription	HMEC	breast
17	chr14:21688200-21725200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:21688400-21704200	Strong transcription	HSMM	muscle
19	chr14:21688400-21712800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:21688600-21707000	Strong transcription	Placenta	Placenta
21	chr14:21689400-21703400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:21689600-21704600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:21689600-21723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:21689600-21725000	Strong transcription	NHEK	skin
25	chr14:21689800-21709200	Strong transcription	Hela-S3	cervix
26	chr14:21689800-21716200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:21690000-21703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:21690200-21705600	Weak transcription	Small Intestine	intestine
29	chr14:21691400-21703800	Strong transcription	HepG2	liver
30	chr14:21691600-21704600	Strong transcription	HUVEC	blood vessel
31	chr14:21692000-21703000	Strong transcription	HSMMtube	muscle
32	chr14:21692000-21730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:21693000-21704200	Strong transcription	NH-A	brain
34	chr14:21694400-21705600	Weak transcription	Aorta	Aorta
35	chr14:21695000-21711600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:21696400-21718400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:21697400-21704800	Strong transcription	NHDF-Ad	bronchial
38	chr14:21697400-21705600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr14:21697400-21708000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr14:21697600-21716400	Strong transcription	K562	blood
41	chr14:21698000-21712600	Strong transcription	Primary B cells from cord blood	blood
42	chr14:21698000-21718000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:21698600-21703200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr14:21698600-21703400	Genic enhancers	Colon Smooth Muscle	Colon
45	chr14:21698800-21709200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:21699400-21703400	Genic enhancers	Brain Anterior Caudate	brain
47	chr14:21699600-21706600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:21699800-21707200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr14:21699800-21716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:21699800-21718600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--

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