Variant report

Variant	esv3372563
Chromosome Location	chr1:56996027-56996357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:56967555..56969959-chr1:56994759..56997021,2	K562	blood:
2	chr1:56996284..56998415-chr1:56998780..57000786,2	MCF-7	breast:
3	chr1:56968459..56970187-chr1:56994690..56997021,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188413151	chr1:56996029-56996030	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143590085	chr1:56996032-56996033	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571198399	chr1:56996043-56996044	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78213655	chr1:56996054-56996055	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4532850	chr1:56996104-56996105	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs569834559	chr1:56996105-56996106	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145714444	chr1:56996110-56996111	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185121634	chr1:56996126-56996127	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566219724	chr1:56996189-56996190	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4634932	chr1:56996191-56996192	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs558472824	chr1:56996249-56996250	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200622549	chr1:56996274-56996275	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578246199	chr1:56996283-56996284	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543471359	chr1:56996284-56996285	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556969565	chr1:56996285-56996286	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573798046	chr1:56996302-56996303	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542658665	chr1:56996330-56996331	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147665663	chr1:56996341-56996342	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528326840	chr1:56996344-56996345	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370600818	chr1:56996345-56996346	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7556056	chr1:56996347-56996348	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:93)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56977800-56999200	Weak transcription	A549	lung
3	chr1:56983400-57000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
5	chr1:56990000-57004000	Genic enhancers	Liver	Liver
6	chr1:56990200-56998600	Enhancers	Brain Substantia Nigra	brain
7	chr1:56990400-56996200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:56990600-56996600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:56990600-56997800	Enhancers	Brain Anterior Caudate	brain
10	chr1:56990800-56996600	Genic enhancers	NHLF	lung
11	chr1:56990800-56997000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:56990800-56997200	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:56990800-56997400	Enhancers	Brain Hippocampus Middle	brain
14	chr1:56991000-56996200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:56991200-56996600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:56991800-56996800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:56992000-57001200	Weak transcription	Spleen	Spleen
18	chr1:56992600-56997400	Weak transcription	Lung	lung
19	chr1:56992800-56997800	Weak transcription	HSMMtube	muscle
20	chr1:56992800-56998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:56992800-56998800	Weak transcription	Gastric	stomach
22	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
23	chr1:56993000-56998800	Enhancers	Ovary	ovary
24	chr1:56993000-56999800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:56993000-57004600	Weak transcription	Hela-S3	cervix
26	chr1:56993200-57001400	Enhancers	Right Atrium	heart
27	chr1:56993600-57007800	Weak transcription	Primary B cells from cord blood	blood
28	chr1:56993800-56998000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:56993800-56998200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:56993800-57004200	Weak transcription	NH-A	brain
31	chr1:56994000-56997800	Weak transcription	Esophagus	oesophagus
32	chr1:56994000-56997800	Weak transcription	Thymus	Thymus
33	chr1:56994000-56998600	Weak transcription	Colonic Mucosa	Colon
34	chr1:56994000-56999000	Weak transcription	Aorta	Aorta
35	chr1:56994000-57000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:56994000-57001200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:56994000-57004000	Weak transcription	HUVEC	blood vessel
38	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
39	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
40	chr1:56994200-56998000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:56994200-56998800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:56994200-56999400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:56994200-57001200	Weak transcription	Dnd41	blood
44	chr1:56994200-57004400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr1:56994400-56997000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:56994400-56998400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:56994400-57002600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:56994600-56996400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:56994600-56997000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:56994600-56997000	Strong transcription	Fetal Lung	lung

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