Variant report

Variant	esv3322248
Chromosome Location	chr2:11736301-11737549
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	chr2:11737451..11740720-chr2:11742097..11745716,3	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36030386	chr2:11736305-11736306	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560071589	chr2:11736348-11736349	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375706493	chr2:11736354-11736355	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370335808	chr2:11736393-11736394	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570987596	chr2:11736396-11736397	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527634955	chr2:11736436-11736437	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150645771	chr2:11736437-11736438	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539816304	chr2:11736466-11736467	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531404170	chr2:11736471-11736472	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549534504	chr2:11736521-11736522	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370060366	chr2:11736543-11736544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376061676	chr2:11736568-11736569	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570048754	chr2:11736573-11736574	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529327871	chr2:11736580-11736581	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375509494	chr2:11736609-11736610	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11447667	chr2:11736610-11736611	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397762209	chr2:11736613-11736614	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193170948	chr2:11736621-11736622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185442300	chr2:11736650-11736651	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144240097	chr2:11736896-11736897	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115270212	chr2:11736911-11736912	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199602270	chr2:11736931-11736932	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566058210	chr2:11736940-11736941	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549280069	chr2:11736963-11736964	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190542773	chr2:11736979-11736980	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138842965	chr2:11737038-11737039	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61421961	chr2:11737060-11737061	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183586662	chr2:11737066-11737067	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570338127	chr2:11737079-11737080	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537655981	chr2:11737087-11737088	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555979826	chr2:11737094-11737095	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73915441	chr2:11737116-11737117	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142020721	chr2:11737132-11737133	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146378897	chr2:11737155-11737156	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572013996	chr2:11737172-11737173	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545428669	chr2:11737177-11737178	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55936089	chr2:11737229-11737230	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs139685104	chr2:11737242-11737243	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144518083	chr2:11737274-11737275	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561544697	chr2:11737275-11737276	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529411098	chr2:11737276-11737277	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549088264	chr2:11737278-11737279	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374761466	chr2:11737286-11737287	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79405636	chr2:11737322-11737323	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376419649	chr2:11737349-11737350	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58233899	chr2:11737369-11737370	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533386692	chr2:11737376-11737377	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188330221	chr2:11737405-11737406	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114358984	chr2:11737454-11737455	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537717436	chr2:11737470-11737471	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	21785460	CNVD
Autism	20531469	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11694800-11755200	Weak transcription	Gastric	stomach
3	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
4	chr2:11711600-11738600	Weak transcription	Left Ventricle	heart
5	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:11717600-11767000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:11719200-11738000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:11719400-11750800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11723000-11740400	Weak transcription	Liver	Liver
10	chr2:11723400-11740000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:11723600-11738600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:11724400-11738000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:11724400-11738600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:11724400-11788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:11724600-11741000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:11724600-11766800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:11724600-11766800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:11724800-11749600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:11725000-11743800	Weak transcription	Fetal Kidney	kidney
20	chr2:11725400-11742400	Strong transcription	Ovary	ovary
21	chr2:11725600-11766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:11732800-11736800	Strong transcription	Fetal Stomach	stomach
23	chr2:11733000-11736400	Strong transcription	Fetal Muscle Leg	muscle
24	chr2:11733400-11750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:11733600-11737000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:11733600-11737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:11733600-11750600	Weak transcription	Pancreas	Pancrea
28	chr2:11733600-11784000	Strong transcription	HepG2	liver
29	chr2:11735000-11737800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:11735200-11736600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:11735200-11738400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:11735200-11744600	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr2:11735200-11746400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:11735400-11736400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:11735400-11736400	Strong transcription	Brain Substantia Nigra	brain
36	chr2:11735400-11736600	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr2:11735600-11736400	Strong transcription	Brain Angular Gyrus	brain
38	chr2:11735600-11745000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:11735600-11746600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:11736000-11736400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:11736000-11737400	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:11736000-11737800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:11736000-11743000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:11736200-11737400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:11736200-11737600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:11736200-11738400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:11736200-11738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:11736200-11741000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:11736200-11765000	Weak transcription	Fetal Lung	lung
50	chr2:11736400-11737800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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