Variant report

Variant	nsv945926
Chromosome Location	chr1:47100728-47104475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47096461..47099303-chr1:47102647..47105072,2	K562	blood:
2	chr1:47089433..47091250-chr1:47102705..47105351,2	K562	blood:
3	chr1:47101531..47103755-chr1:47107864..47109587,2	K562	blood:
4	chr1:47101531..47106665-chr1:47107497..47111745,7	K562	blood:
5	chr1:47102903..47105171-chr1:47109988..47112496,2	K562	blood:
6	chr1:47104425..47105991-chr1:47107497..47109430,2	K562	blood:
7	chr1:47093097..47096139-chr1:47100393..47103970,3	K562	blood:

Variant related genes	Relation type
ENSG00000123472	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs567613944	chr1:47100731-47100732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573864203	chr1:47100763-47100764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534708041	chr1:47100782-47100783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115645375	chr1:47100800-47100801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578197316	chr1:47100801-47100802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545750300	chr1:47100856-47100857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142897797	chr1:47100858-47100859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181675571	chr1:47100868-47100869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543534152	chr1:47100879-47100880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7414547	chr1:47100921-47100922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561632807	chr1:47100945-47100946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114010505	chr1:47100971-47100972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540687538	chr1:47100986-47100987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs724309	chr1:47101015-47101016	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186653236	chr1:47101036-47101037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs946319	chr1:47101045-47101046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146114565	chr1:47101078-47101079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552824316	chr1:47101083-47101084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2181411	chr1:47101117-47101118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368821704	chr1:47101139-47101140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549409085	chr1:47101142-47101143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372417440	chr1:47101146-47101147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534980860	chr1:47101173-47101174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568022784	chr1:47101197-47101198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553074616	chr1:47101203-47101204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113289280	chr1:47101209-47101210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183825477	chr1:47101260-47101261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558422769	chr1:47101272-47101273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575866352	chr1:47101297-47101298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186444368	chr1:47101318-47101319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189535603	chr1:47101338-47101339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182235204	chr1:47101364-47101365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374255752	chr1:47101386-47101387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370252438	chr1:47101416-47101417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140579145	chr1:47101493-47101494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138116431	chr1:47101496-47101497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143257779	chr1:47101519-47101520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186886912	chr1:47101540-47101541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142921068	chr1:47101547-47101548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139683803	chr1:47101556-47101557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs41298535	chr1:47101565-47101566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149829714	chr1:47101568-47101569	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372997249	chr1:47101586-47101587	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs4660952	chr1:47101598-47101599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs202211942	chr1:47101609-47101610	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs149664388	chr1:47101618-47101619	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs61783140	chr1:47101619-47101620	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548918610	chr1:47101621-47101622	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200142521	chr1:47101649-47101650	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371729171	chr1:47101652-47101653	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	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
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Cancer	17440070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47083200-47104600	Weak transcription	Stomach Mucosa	stomach
2	chr1:47083200-47115000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:47083400-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:47088000-47100800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:47088200-47131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:47088600-47108600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:47088600-47108800	Weak transcription	Hela-S3	cervix
8	chr1:47089800-47112400	Weak transcription	Small Intestine	intestine
9	chr1:47090200-47121400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:47091400-47105000	Weak transcription	HMEC	breast
11	chr1:47091600-47100800	Weak transcription	Fetal Kidney	kidney
12	chr1:47094200-47101600	Strong transcription	Left Ventricle	heart
13	chr1:47094200-47102600	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:47094200-47102600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr1:47094200-47103400	Strong transcription	Fetal Muscle Leg	muscle
16	chr1:47094200-47105800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:47094400-47102400	Strong transcription	Brain Angular Gyrus	brain
18	chr1:47094400-47103800	Strong transcription	Primary T cells from cord blood	blood
19	chr1:47094600-47102600	Strong transcription	Adipose Nuclei	Adipose
20	chr1:47094600-47105600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:47094600-47111000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr1:47094600-47119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:47095200-47107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:47095400-47103600	Strong transcription	Liver	Liver
25	chr1:47095600-47102200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:47095600-47103000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:47095600-47103000	Strong transcription	Brain Cingulate Gyrus	brain
28	chr1:47095600-47103000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:47095600-47103200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:47095600-47104000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:47095600-47109000	Strong transcription	Placenta	Placenta
32	chr1:47095800-47104600	Weak transcription	A549	lung
33	chr1:47096000-47103400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:47096400-47103200	Strong transcription	Fetal Brain Female	brain
35	chr1:47096600-47101600	Strong transcription	Right Ventricle	heart
36	chr1:47096600-47101800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:47096600-47103800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:47096600-47105800	Strong transcription	Brain Anterior Caudate	brain
39	chr1:47096800-47102800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:47096800-47103000	Strong transcription	Brain Germinal Matrix	brain
41	chr1:47096800-47103600	Strong transcription	Brain Hippocampus Middle	brain
42	chr1:47096800-47103800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:47096800-47105600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:47097000-47100800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:47097000-47101800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:47097000-47101800	Strong transcription	Fetal Thymus	thymus
47	chr1:47097000-47102400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:47097000-47102800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:47097000-47102800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:47097000-47103000	Strong transcription	Ovary	ovary

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