Variant report

Variant	esv1824403
Chromosome Location	chr1:62080228-62083557
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	chr1:62078266..62080827-chr1:62086486..62088051,2	K562	blood:
2	chr1:62078897..62080421-chr1:62179528..62181828,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386631701	chr1:62080228-62080229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12063099	chr1:62080229-62080230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12063129	chr1:62080241-62080242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551570091	chr1:62080286-62080287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140299348	chr1:62080390-62080391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11207789	chr1:62080405-62080406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs185792958	chr1:62080447-62080448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17122523	chr1:62080453-62080454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537855869	chr1:62080455-62080456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1495948	chr1:62080477-62080478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571338759	chr1:62080519-62080520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538318929	chr1:62080533-62080534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191051640	chr1:62080555-62080556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532783427	chr1:62080596-62080597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17377908	chr1:62080668-62080669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536444056	chr1:62080701-62080702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10889241	chr1:62080709-62080710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576613555	chr1:62080715-62080716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182770970	chr1:62080737-62080738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10889242	chr1:62080740-62080741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577156441	chr1:62080800-62080801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200462805	chr1:62080877-62080878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541569409	chr1:62080879-62080880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11801234	chr1:62080887-62080888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12135691	chr1:62080897-62080898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549156354	chr1:62080931-62080932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187864582	chr1:62080939-62080940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531474868	chr1:62080946-62080947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191180026	chr1:62080963-62080964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150315961	chr1:62080969-62080970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs137989490	chr1:62080999-62081000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116803405	chr1:62081009-62081010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371304155	chr1:62081015-62081016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67666198	chr1:62081056-62081057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56407722	chr1:62081058-62081059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60405222	chr1:62081059-62081060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565426264	chr1:62081065-62081066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536452271	chr1:62081078-62081079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375025086	chr1:62081084-62081085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554715734	chr1:62081130-62081131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10889243	chr1:62081148-62081149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537378484	chr1:62081159-62081160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34350541	chr1:62081174-62081175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559184643	chr1:62081190-62081191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35205952	chr1:62081191-62081192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182927405	chr1:62081279-62081280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149492117	chr1:62081309-62081310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559897687	chr1:62081321-62081322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35904324	chr1:62081373-62081374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187556176	chr1:62081405-62081406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62073200-62081800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:62073200-62084400	Weak transcription	Esophagus	oesophagus
3	chr1:62073200-62086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:62073200-62098800	Weak transcription	Right Atrium	heart
5	chr1:62073400-62084200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:62074200-62081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:62074200-62082200	Weak transcription	NHEK	skin
8	chr1:62077400-62080400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:62078600-62082200	Weak transcription	HSMMtube	muscle
10	chr1:62079200-62086000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:62080000-62080400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:62080200-62080600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:62080400-62086000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:62080400-62086000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:62080600-62084400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:62081800-62082800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:62081800-62082800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:62081800-62083000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:62082000-62082200	Bivalent Enhancer	Placenta	Placenta
20	chr1:62082200-62082400	Enhancers	Aorta	Aorta
21	chr1:62082200-62082600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:62082200-62082600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:62082200-62082800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:62082200-62082800	Enhancers	Placenta	Placenta
25	chr1:62082200-62082800	Enhancers	HSMMtube	muscle
26	chr1:62082200-62082800	Enhancers	NHEK	skin
27	chr1:62082200-62083000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:62082400-62082600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:62082400-62082800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:62082400-62082800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:62082400-62082800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:62082400-62082800	Enhancers	HMEC	breast
33	chr1:62082400-62082800	Enhancers	NHDF-Ad	bronchial
34	chr1:62082400-62083200	Weak transcription	Aorta	Aorta
35	chr1:62082800-62083800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:62082800-62084000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:62082800-62084200	Weak transcription	NHEK	skin
38	chr1:62082800-62084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:62082800-62084400	Weak transcription	HMEC	breast
40	chr1:62083000-62084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:62083000-62084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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