Variant report

Variant	nsv524337
Chromosome Location	chr2:33612842-33614187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33608144..33609777-chr2:33613186..33615395,2	K562	blood:
2	chr2:33612532..33615495-chr2:33620487..33623210,2	MCF-7	breast:
3	chr2:33612365..33616545-chr2:33619739..33622909,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2015189	chr2:33612842-33612843	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189580730	chr2:33612860-33612861	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575518830	chr2:33612877-33612878	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537990676	chr2:33612878-33612879	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558131330	chr2:33612892-33612893	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375667003	chr2:33612912-33612913	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11888496	chr2:33612941-33612942	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577991806	chr2:33612963-33612964	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545909075	chr2:33613000-33613001	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553306708	chr2:33613021-33613022	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568491305	chr2:33613049-33613050	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180813444	chr2:33613050-33613051	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573124902	chr2:33613069-33613070	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528192361	chr2:33613082-33613083	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150965946	chr2:33613104-33613105	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531014667	chr2:33613108-33613109	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544401102	chr2:33613112-33613113	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369469378	chr2:33613133-33613134	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533430941	chr2:33613204-33613205	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546307434	chr2:33613205-33613206	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566485606	chr2:33613206-33613207	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118068111	chr2:33613231-33613232	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1869449	chr2:33613232-33613233	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140765088	chr2:33613248-33613249	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570651828	chr2:33613312-33613313	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557967687	chr2:33613321-33613322	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13015373	chr2:33613324-33613325	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1869450	chr2:33613354-33613355	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115687129	chr2:33613393-33613394	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1869451	chr2:33613402-33613403	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185764561	chr2:33613415-33613416	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555489633	chr2:33613418-33613419	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556493104	chr2:33613432-33613433	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575328272	chr2:33613441-33613442	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539818492	chr2:33613452-33613453	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544438585	chr2:33613495-33613496	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188568133	chr2:33613536-33613537	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146729316	chr2:33613546-33613547	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1017677	chr2:33613593-33613594	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs560576939	chr2:33613613-33613614	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181612306	chr2:33613643-33613644	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371367433	chr2:33613668-33613669	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371273505	chr2:33613678-33613679	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114099057	chr2:33613687-33613688	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569007976	chr2:33613753-33613754	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185939182	chr2:33613754-33613755	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191563762	chr2:33613828-33613829	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6709900	chr2:33613830-33613831	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375226938	chr2:33613848-33613849	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140317582	chr2:33613863-33613864	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33588400-33624400	Weak transcription	Gastric	stomach
2	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:33591400-33616000	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:33596200-33614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:33596400-33613800	Weak transcription	Liver	Liver
9	chr2:33597200-33622200	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:33602200-33613600	Weak transcription	NHLF	lung
11	chr2:33604200-33613000	Weak transcription	NH-A	brain
12	chr2:33604200-33614000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:33604200-33616600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:33604200-33624800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:33604600-33623600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:33604800-33614000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:33604800-33616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:33604800-33616800	Weak transcription	Brain Anterior Caudate	brain
19	chr2:33605400-33616000	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:33607600-33616600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:33608200-33614200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:33609400-33614200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:33609800-33615000	Weak transcription	NHDF-Ad	bronchial
24	chr2:33609800-33630200	Weak transcription	Fetal Heart	heart
25	chr2:33610000-33622200	Weak transcription	Left Ventricle	heart
26	chr2:33610200-33615000	Weak transcription	Psoas Muscle	Psoas
27	chr2:33610400-33616200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:33610600-33614400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:33611200-33615600	Strong transcription	Osteobl	bone
30	chr2:33611400-33616200	Weak transcription	Fetal Lung	lung
31	chr2:33611800-33613400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:33612200-33614000	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:33612400-33613200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:33612400-33615000	Genic enhancers	Fetal Stomach	stomach
35	chr2:33612600-33613000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr2:33612600-33613000	Strong transcription	Right Ventricle	heart
37	chr2:33612600-33613400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:33612600-33613400	Enhancers	Aorta	Aorta
39	chr2:33612600-33613600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:33612600-33613600	Enhancers	Ovary	ovary
41	chr2:33612800-33613000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:33612800-33613400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:33612800-33621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:33613000-33613600	Enhancers	NH-A	brain
45	chr2:33613000-33623000	Weak transcription	Right Ventricle	heart
46	chr2:33613200-33613400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:33613400-33614000	Weak transcription	Aorta	Aorta
48	chr2:33613400-33615000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:33613400-33621800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:33613400-33625000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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