Variant report

Variant	esv3357952
Chromosome Location	chr2:114362514-114363053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:114361970-114362553	GM12878	blood:	n/a	n/a
2	BATF	chr2:114362909-114363236	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:114361535-114362539	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:114362979-114363180	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:114362985-114363395	GM12878	blood:	n/a	n/a
6	BCL11A	chr2:114362360-114362601	GM12878	blood:	n/a	n/a
7	CTCF	chr2:114361365-114362626	A549	lung:	n/a	n/a
8	CTCF	chr2:114362560-114362710	HBMEC	blood vessel:	n/a	n/a
9	EBF1	chr2:114362928-114363275	GM12878	blood:	n/a	n/a
10	EBF1	chr2:114362274-114362554	GM12878	blood:	n/a	n/a
11	EP300	chr2:114363001-114363275	GM12878	blood:	n/a	n/a
12	EP300	chr2:114361571-114362714	GM12878	blood:	n/a	n/a
13	EP300	chr2:114362894-114363298	GM12878	blood:	n/a	n/a
14	FOSL2	chr2:114362878-114363274	HepG2	liver:	n/a	n/a
15	FOSL2	chr2:114360802-114362668	HepG2	liver:	n/a	n/a
16	FOSL2	chr2:114362905-114363237	HepG2	liver:	n/a	n/a
17	GABPA	chr2:114362907-114363258	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr2:114362251-114362588	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr2:114362961-114363106	Hela-S3	cervix:	n/a	n/a
20	GATA2	chr2:114362904-114363902	K562	blood:	n/a	n/a
21	GATA2	chr2:114361518-114362703	K562	blood:	n/a	n/a
22	HEY1	chr2:114362906-114363247	K562	blood:	n/a	n/a
23	HEY1	chr2:114362199-114362521	K562	blood:	n/a	n/a
24	HEY1	chr2:114361385-114362552	K562	blood:	n/a	n/a
25	IRF4	chr2:114362947-114363303	GM12878	blood:	n/a	n/a
26	IRF4	chr2:114362888-114363338	GM12878	blood:	n/a	n/a
27	IRF4	chr2:114361506-114362697	GM12878	blood:	n/a	n/a
28	IRF4	chr2:114361471-114362675	GM12878	blood:	n/a	n/a
29	JUND	chr2:114363001-114363154	HepG2	liver:	n/a	n/a
30	JUND	chr2:114362284-114362655	HepG2	liver:	n/a	n/a
31	JUND	chr2:114362905-114363260	HepG2	liver:	n/a	n/a
32	PAX5	chr2:114362876-114363347	GM12878	blood:	n/a	n/a
33	PAX5	chr2:114362245-114362526	GM12878	blood:	n/a	n/a
34	PAX5	chr2:114360886-114362640	GM12878	blood:	n/a	n/a
35	PAX5	chr2:114362906-114363273	GM12878	blood:	n/a	n/a
36	PAX5	chr2:114360765-114362666	GM12878	blood:	n/a	n/a
37	PAX5	chr2:114362915-114363200	GM12878	blood:	n/a	n/a
38	PBX3	chr2:114362268-114362554	GM12878	blood:	n/a	n/a
39	PBX3	chr2:114362936-114363176	GM12878	blood:	n/a	n/a
40	POLR2A	chr2:114362889-114363194	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:114360426-114362582	GM12892	blood:	n/a	n/a
42	POLR2A	chr2:114360810-114362554	GM12891	blood:	n/a	n/a
43	POLR2A	chr2:114362945-114363183	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr2:114362515-114362732	K562	blood:	n/a	n/a
45	POLR2A	chr2:114343576-114362718	GM12892	blood:	n/a	n/a
46	POLR2A	chr2:114360773-114362635	GM12892	blood:	n/a	n/a
47	POU2F2	chr2:114360604-114362709	GM12878	blood:	n/a	n/a
48	POU2F2	chr2:114362893-114363386	GM12878	blood:	n/a	n/a
49	POU2F2	chr2:114361352-114362595	GM12891	blood:	n/a	n/a
50	POU2F2	chr2:114360747-114362683	GM12891	blood:	n/a	n/a

No data

Variant related genes	Relation type
DDX11L2	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148735709	chr2:114362534-114362535	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs4126369	chr2:114362547-114362548	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs4274604	chr2:114362551-114362552	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139985074	chr2:114362564-114362565	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs187913752	chr2:114362565-114362566	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs577292946	chr2:114362576-114362577	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs7584960	chr2:114362594-114362595	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs572946790	chr2:114362599-114362600	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs542209050	chr2:114362615-114362616	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7572894	chr2:114362645-114362646	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs144537720	chr2:114362666-114362667	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs6722526	chr2:114362697-114362698	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182609968	chr2:114362705-114362706	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9308684	chr2:114362714-114362715	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187660796	chr2:114362741-114362742	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550875414	chr2:114362765-114362766	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201748501	chr2:114362774-114362775	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533660120	chr2:114362797-114362798	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547366286	chr2:114362798-114362799	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28719082	chr2:114362800-114362801	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28439186	chr2:114362801-114362802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192840808	chr2:114362817-114362818	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs184899261	chr2:114362818-114362819	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs535068869	chr2:114362828-114362829	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs187512120	chr2:114362829-114362830	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs13409749	chr2:114362830-114362831	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537972765	chr2:114362847-114362848	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs10167122	chr2:114362880-114362881	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs577455336	chr2:114362922-114362923	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs9631026	chr2:114362932-114362933	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs533831156	chr2:114362938-114362939	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs184572297	chr2:114362946-114362947	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs28431031	chr2:114362960-114362961	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs553601461	chr2:114362970-114362971	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs9631027	chr2:114362981-114362982	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12612152	chr2:114363009-114363010	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs573605675	chr2:114363034-114363035	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114360600-114362800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:114361200-114362600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:114361800-114362600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr2:114361800-114362600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:114361800-114362600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:114361800-114369400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:114361800-114372000	Weak transcription	NH-A	brain
8	chr2:114361800-114383000	Weak transcription	Fetal Lung	lung
9	chr2:114361800-114383000	Weak transcription	Right Ventricle	heart
10	chr2:114361800-114383600	Weak transcription	Liver	Liver
11	chr2:114361800-114383600	Weak transcription	Fetal Stomach	stomach
12	chr2:114362000-114362600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:114362000-114362800	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:114362000-114362800	Enhancers	Fetal Thymus	thymus
15	chr2:114362000-114365400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:114362000-114365600	Weak transcription	K562	blood
17	chr2:114362200-114362600	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:114362200-114362600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:114362200-114363600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:114362200-114380800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:114362200-114382800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:114362200-114383000	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:114362200-114383600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:114362400-114362600	Enhancers	Brain Substantia Nigra	brain
25	chr2:114362400-114362600	Enhancers	Fetal Brain Male	brain
26	chr2:114362400-114362600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:114362400-114362600	Enhancers	Dnd41	blood
28	chr2:114362400-114364000	Weak transcription	Fetal Intestine Small	intestine
29	chr2:114362600-114382800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:114362600-114383200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:114362800-114364000	Weak transcription	Fetal Thymus	thymus
32	chr2:114362800-114382800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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