Variant report

Variant	nsv962512
Chromosome Location	chr2:180271870-180286262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180083424..180084063-chr2:180275340..180276272,2	MCF-7	breast:
2	chr2:180275349..180276229-chr2:180615641..180616550,4	MCF-7	breast:
3	chr2:180275386..180276286-chr2:180615603..180616556,3	K562	blood:
4	chr2:180275797..180276467-chr2:180305166..180305736,2	MCF-7	breast:
5	chr2:180275260..180275773-chr2:180941931..180942644,2	MCF-7	breast:

Extended variants
information (count: 197 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190055017	chr2:180275287-180275288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145322961	chr2:180275304-180275305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13410126	chr2:180275371-180275372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527600438	chr2:180275390-180275391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547359386	chr2:180275416-180275417	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368021378	chr2:180275458-180275459	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182331080	chr2:180275466-180275467	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533039654	chr2:180275474-180275475	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549939093	chr2:180275475-180275476	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186948218	chr2:180275497-180275498	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368446082	chr2:180275638-180275639	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76812685	chr2:180275681-180275682	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552268991	chr2:180275686-180275687	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549316938	chr2:180275703-180275704	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191404416	chr2:180275720-180275721	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148016011	chr2:180275807-180275808	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs141715974	chr2:180275859-180275860	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs1400825	chr2:180275888-180275889	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs537062757	chr2:180275889-180275890	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs368924267	chr2:180275958-180275959	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs76442970	chr2:180276020-180276021	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs574053579	chr2:180276029-180276030	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs78389115	chr2:180276030-180276031	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs555313098	chr2:180276038-180276039	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs150563921	chr2:180276066-180276067	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs566817185	chr2:180276076-180276077	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs541366937	chr2:180276084-180276085	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs139602702	chr2:180276092-180276093	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs537075838	chr2:180276111-180276112	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs532924303	chr2:180276138-180276139	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs185655680	chr2:180276147-180276148	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs12615937	chr2:180276164-180276165	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs529017292	chr2:180276177-180276178	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs549548301	chr2:180276213-180276214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76788069	chr2:180276249-180276250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528764816	chr2:180276299-180276300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551622932	chr2:180276324-180276325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369599807	chr2:180276353-180276354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539544474	chr2:180276376-180276377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7582284	chr2:180276393-180276394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556945808	chr2:180276419-180276420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567739950	chr2:180276546-180276547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536393462	chr2:180276560-180276561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555517823	chr2:180276564-180276565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572182899	chr2:180276586-180276587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541245557	chr2:180276595-180276596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188983818	chr2:180276599-180276600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142884103	chr2:180276619-180276620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543405795	chr2:180276639-180276640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563180451	chr2:180276659-180276660	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180275200-180275800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:180275400-180275800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:180275400-180275800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:180275400-180276000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr2:180275400-180276000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:180275400-180276000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:180275600-180275800	Enhancers	Brain Anterior Caudate	brain
8	chr2:180275600-180275800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr2:180275600-180276000	Enhancers	Adipose Nuclei	Adipose
10	chr2:180275600-180277200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:180275800-180276000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:180275800-180276000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:180275800-180276000	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr2:180275800-180276000	Enhancers	Fetal Muscle Leg	muscle
15	chr2:180275800-180276200	Enhancers	Brain Angular Gyrus	brain
16	chr2:180275800-180276200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr2:180275800-180276200	Active TSS	Brain Hippocampus Middle	brain
18	chr2:180275800-180276200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr2:180275800-180276200	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr2:180275800-180277000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:180275800-180277400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:180275800-180277400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:180275800-180277400	Enhancers	Osteobl	bone
24	chr2:180276000-180276200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:180276000-180276200	Active TSS	Brain Substantia Nigra	brain
26	chr2:180276600-180277200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:180276600-180277600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:180276800-180277000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:180276800-180277200	Enhancers	HSMM	muscle
30	chr2:180283200-180284000	Enhancers	HepG2	liver
31	chr2:180284000-180292600	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links