Variant report

Variant	esv3359856
Chromosome Location	chr2:11735526-11738274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11734732..11736294-chr2:11737996..11740139,2	K562	blood:
2	chr2:11734732..11736294-chr2:11737996..11740139,2	K562	blood:
3	chr2:11733968..11736190-chr2:11742659..11745158,2	K562	blood:
4	chr2:11737451..11740720-chr2:11742097..11745716,3	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548179386	chr2:11735535-11735536	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184191764	chr2:11735536-11735537	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200042593	chr2:11735543-11735544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370372239	chr2:11735545-11735546	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148088621	chr2:11735556-11735557	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570620377	chr2:11735580-11735581	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201547144	chr2:11735583-11735584	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201944561	chr2:11735654-11735655	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531730600	chr2:11735677-11735678	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187385360	chr2:11735683-11735684	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111240596	chr2:11735740-11735741	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561851651	chr2:11735809-11735810	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141827432	chr2:11735827-11735828	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559613879	chr2:11735857-11735858	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11679686	chr2:11736037-11736038	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs566273862	chr2:11736047-11736048	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115012541	chr2:11736050-11736051	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558110073	chr2:11736136-11736137	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115647382	chr2:11736148-11736149	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370663893	chr2:11736200-11736201	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543987462	chr2:11736224-11736225	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201322586	chr2:11736232-11736233	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556316444	chr2:11736250-11736251	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574550365	chr2:11736268-11736269	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs36030386	chr2:11736305-11736306	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560071589	chr2:11736348-11736349	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375706493	chr2:11736354-11736355	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370335808	chr2:11736393-11736394	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570987596	chr2:11736396-11736397	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527634955	chr2:11736436-11736437	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150645771	chr2:11736437-11736438	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539816304	chr2:11736466-11736467	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531404170	chr2:11736471-11736472	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549534504	chr2:11736521-11736522	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370060366	chr2:11736543-11736544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376061676	chr2:11736568-11736569	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570048754	chr2:11736573-11736574	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529327871	chr2:11736580-11736581	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375509494	chr2:11736609-11736610	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11447667	chr2:11736610-11736611	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397762209	chr2:11736613-11736614	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193170948	chr2:11736621-11736622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185442300	chr2:11736650-11736651	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144240097	chr2:11736896-11736897	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115270212	chr2:11736911-11736912	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199602270	chr2:11736931-11736932	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566058210	chr2:11736940-11736941	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549280069	chr2:11736963-11736964	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190542773	chr2:11736979-11736980	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138842965	chr2:11737038-11737039	Weak transcription Enhancers Strong transcription Genic 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:97 , 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	chr2:11720000-11735600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:11723000-11740400	Weak transcription	Liver	Liver
11	chr2:11723400-11740000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:11723600-11735600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:11723600-11738600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:11724400-11738000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:11724400-11738600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:11724400-11788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:11724600-11741000	Weak transcription	Brain Anterior Caudate	brain
18	chr2:11724600-11766800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:11724600-11766800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:11724800-11735600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:11724800-11736000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:11724800-11749600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:11725000-11743800	Weak transcription	Fetal Kidney	kidney
24	chr2:11725400-11742400	Strong transcription	Ovary	ovary
25	chr2:11725600-11766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:11732800-11736800	Strong transcription	Fetal Stomach	stomach
27	chr2:11733000-11736400	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:11733400-11750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:11733600-11735600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:11733600-11737000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:11733600-11737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:11733600-11750600	Weak transcription	Pancreas	Pancrea
33	chr2:11733600-11784000	Strong transcription	HepG2	liver
34	chr2:11734200-11735600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:11735000-11737800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:11735200-11736000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:11735200-11736200	Strong transcription	Fetal Lung	lung
38	chr2:11735200-11736600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:11735200-11738400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:11735200-11744600	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr2:11735200-11746400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:11735400-11736000	Strong transcription	Brain Hippocampus Middle	brain
43	chr2:11735400-11736200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:11735400-11736200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:11735400-11736200	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:11735400-11736400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:11735400-11736400	Strong transcription	Brain Substantia Nigra	brain
48	chr2:11735400-11736600	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr2:11735600-11736200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:11735600-11736200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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