Variant report

Variant	esv1813869
Chromosome Location	chr1:180372766-180377339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180373412..180375725-chr1:180377296..180379670,2	MCF-7	breast:
2	chr1:180374275..180377221-chr1:180383343..180386300,2	K562	blood:
3	chr1:180373412..180375725-chr1:180377296..180379670,2	MCF-7	breast:
4	chr1:180374275..180378586-chr1:180383335..180386300,4	K562	blood:

Extended variants
information (count: 163 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs77476213	chr1:180372779-180372780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558137186	chr1:180372782-180372783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180799714	chr1:180372802-180372803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185806433	chr1:180372803-180372804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190124407	chr1:180372811-180372812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146489788	chr1:180372851-180372852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542828235	chr1:180372895-180372896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72714856	chr1:180372900-180372901	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576094877	chr1:180372905-180372906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568744034	chr1:180372917-180372918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527749261	chr1:180372930-180372931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183081408	chr1:180373080-180373081	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111265763	chr1:180373085-180373086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564917774	chr1:180373152-180373153	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527266049	chr1:180373164-180373165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111981634	chr1:180373168-180373169	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111998931	chr1:180373196-180373197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546173778	chr1:180373204-180373205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529529585	chr1:180373266-180373267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549564797	chr1:180373275-180373276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150222425	chr1:180373303-180373304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75158824	chr1:180373371-180373372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551452715	chr1:180373401-180373402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571341543	chr1:180373448-180373449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57424497	chr1:180373456-180373457	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553722417	chr1:180373467-180373468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564259943	chr1:180373474-180373475	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367985569	chr1:180373475-180373476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72714859	chr1:180373479-180373480	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186792883	chr1:180373484-180373485	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145783427	chr1:180373525-180373526	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576152779	chr1:180373527-180373528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs59662396	chr1:180373586-180373587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191966910	chr1:180373588-180373589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572145383	chr1:180373600-180373601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61024380	chr1:180373603-180373604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560829880	chr1:180373628-180373629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184222466	chr1:180373631-180373632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549410664	chr1:180373632-180373633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201883867	chr1:180373705-180373706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563138926	chr1:180373707-180373708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531797676	chr1:180373746-180373747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551488106	chr1:180373751-180373752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148928739	chr1:180373753-180373754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527745041	chr1:180373763-180373764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547395558	chr1:180373771-180373772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567501515	chr1:180373781-180373782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188724372	chr1:180373802-180373803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556172584	chr1:180373824-180373825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72714861	chr1:180373897-180373898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180341200-180401400	Weak transcription	Osteobl	bone
2	chr1:180348200-180382600	Weak transcription	Pancreas	Pancrea
3	chr1:180349400-180407000	Weak transcription	Esophagus	oesophagus
4	chr1:180351600-180378400	Weak transcription	HSMM	muscle
5	chr1:180352400-180381400	Weak transcription	Hela-S3	cervix
6	chr1:180352800-180399400	Weak transcription	Fetal Thymus	thymus
7	chr1:180354600-180374000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:180354800-180386600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:180355200-180402600	Weak transcription	HMEC	breast
10	chr1:180355400-180378800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:180355600-180378400	Weak transcription	Placenta	Placenta
12	chr1:180355600-180390800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:180356600-180381400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:180356600-180394000	Weak transcription	NHDF-Ad	bronchial
15	chr1:180356800-180373000	Weak transcription	Fetal Intestine Small	intestine
16	chr1:180356800-180378600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:180356800-180378800	Weak transcription	Left Ventricle	heart
18	chr1:180356800-180380800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:180356800-180406200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:180356800-180407000	Weak transcription	Aorta	Aorta
21	chr1:180357000-180378400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:180358200-180374000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:180360200-180378000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:180360400-180394200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:180361000-180378600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:180361000-180381000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:180361000-180383400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:180361400-180407600	Weak transcription	HepG2	liver
29	chr1:180361600-180382800	Weak transcription	Liver	Liver
30	chr1:180362600-180379200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:180363400-180385200	Weak transcription	Fetal Kidney	kidney
32	chr1:180363800-180378400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:180364000-180394200	Weak transcription	HSMMtube	muscle
34	chr1:180364400-180381600	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:180364400-180383400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:180364400-180384200	Weak transcription	Brain Anterior Caudate	brain
37	chr1:180364400-180392800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:180364400-180401600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:180364600-180380800	Weak transcription	Fetal Stomach	stomach
40	chr1:180364600-180401000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:180364800-180376200	Weak transcription	Fetal Brain Female	brain
42	chr1:180364800-180379200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:180364800-180383800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:180364800-180390200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:180365000-180391200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:180365000-180401000	Weak transcription	Ovary	ovary
47	chr1:180365200-180381000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:180365200-180390200	Weak transcription	Brain Angular Gyrus	brain
49	chr1:180365200-180420600	Weak transcription	A549	lung
50	chr1:180365400-180378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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