Variant report

Variant	esv3356166
Chromosome Location	chr2:11650760-11651171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57920653..57922986-chr2:11651115..11653759,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550681000	chr2:11650794-11650795	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs66685682	chr2:11650815-11650816	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574382227	chr2:11650816-11650817	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78518950	chr2:11650829-11650830	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560339570	chr2:11650831-11650832	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56901979	chr2:11650832-11650833	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376676953	chr2:11650846-11650847	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4669741	chr2:11650867-11650868	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375606119	chr2:11650901-11650902	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202240842	chr2:11650902-11650903	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116763976	chr2:11650924-11650925	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114475396	chr2:11650951-11650952	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566770050	chr2:11650955-11650956	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533796856	chr2:11651003-11651004	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551998440	chr2:11651041-11651042	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570301352	chr2:11651042-11651043	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537981020	chr2:11651046-11651047	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556217606	chr2:11651047-11651048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574809195	chr2:11651051-11651052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535856513	chr2:11651060-11651061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553838809	chr2:11651067-11651068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572745797	chr2:11651076-11651077	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540942569	chr2:11651099-11651100	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546171032	chr2:11651109-11651110	Weak transcription Strong transcription Enhancers	n/a	n/a	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11639600-11655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:11641400-11651600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:11641400-11653200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:11641600-11653800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:11643400-11651200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:11644000-11651800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:11645200-11651800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:11646400-11651600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:11646400-11653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:11647000-11664400	Weak transcription	Right Ventricle	heart
11	chr2:11647000-11665800	Weak transcription	Right Atrium	heart
12	chr2:11647400-11651000	Genic enhancers	HepG2	liver
13	chr2:11648000-11651400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:11648400-11653600	Weak transcription	Brain Germinal Matrix	brain
15	chr2:11648600-11653000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:11648800-11655200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:11648800-11655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:11648800-11655600	Weak transcription	Fetal Stomach	stomach
19	chr2:11649000-11654000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:11649000-11655400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:11649200-11651400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:11650000-11650800	Weak transcription	Ovary	ovary
23	chr2:11650400-11652600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:11650600-11652600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:11650800-11652600	Enhancers	Ovary	ovary
26	chr2:11651000-11655800	Enhancers	HepG2	liver

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