Variant report

Variant	esv3449430
Chromosome Location	chr2:11655089-11655265
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	chr2:11654960-11655110	SK-N-SH_RA	brain:	n/a	n/a
2	FOXA2	chr2:11653903-11655142	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:11655034-11655436	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RNA5SP84	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 59 )

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	rs67894448	chr2:11655113-11655114	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575379417	chr2:11655114-11655115	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs569805191	chr2:11655115-11655116	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs184395237	chr2:11655116-11655117	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs112075293	chr2:11655122-11655123	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs112340536	chr2:11655145-11655146	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187492711	chr2:11655152-11655153	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs73187472	chr2:11655184-11655185	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559353001	chr2:11655186-11655187	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371971826	chr2:11655230-11655231	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201871958	chr2:11655234-11655235	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs371359947	chr2:11655235-11655236	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs149795908	chr2:11655252-11655253	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs71393889	chr2:11655255-11655256	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs571930870	chr2:11655259-11655260	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs199951206	chr2:11655262-11655263	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs28754333	chr2:11655263-11655264	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11647000-11664400	Weak transcription	Right Ventricle	heart
2	chr2:11647000-11665800	Weak transcription	Right Atrium	heart
3	chr2:11648800-11655200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:11648800-11655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:11648800-11655600	Weak transcription	Fetal Stomach	stomach
6	chr2:11649000-11655400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:11651000-11655800	Enhancers	HepG2	liver
8	chr2:11651200-11658200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:11651400-11655400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:11651400-11657000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:11652600-11655400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:11652600-11656200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:11652600-11656400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:11653200-11656200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:11653200-11656600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:11653400-11657400	Enhancers	Ovary	ovary
17	chr2:11653600-11656000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:11653600-11656000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:11654000-11656600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:11654000-11664000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:11654200-11655200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:11654400-11656800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:11654600-11655600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:11654800-11655400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:11654800-11664400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:11655000-11655400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:11655000-11657000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:11655000-11657600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:11655200-11655400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:11655200-11656200	Enhancers	HUES48 Cell Line	embryonic stem cell

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