Variant report

Variant	nsv933978
Chromosome Location	chr1:47770133-47770608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr1:47770277-47770365	K562	blood:	n/a	chr1:47770300-47770310 chr1:47770299-47770311 chr1:47770298-47770309 chr1:47770322-47770339 chr1:47770300-47770314 chr1:47770299-47770312 chr1:47770299-47770310
2	IRF1	chr1:47770489-47770651	K562	blood:	n/a	n/a
3	POLR2A	chr1:47770455-47770722	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47767766..47770259-chr1:47798507..47800404,2	K562	blood:
2	chr1:47768273..47770405-chr1:47831380..47833111,2	K562	blood:
3	chr1:47768301..47773311-chr1:47776226..47780764,7	K562	blood:

Variant related genes	Relation type
STIL	TF binding region
ENSG00000162368	chromatin interactions
ENSG00000123473	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146960051	chr1:47770177-47770178	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs375864784	chr1:47770205-47770206	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs182773328	chr1:47770262-47770263	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12131978	chr1:47770263-47770264	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs529495123	chr1:47770294-47770295	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs61121898	chr1:47770396-47770397	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187461484	chr1:47770413-47770414	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78891937	chr1:47770416-47770417	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3122615	chr1:47770441-47770442	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs3122616	chr1:47770466-47770467	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537839150	chr1:47770473-47770474	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs556149502	chr1:47770498-47770499	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574794796	chr1:47770506-47770507	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200142911	chr1:47770534-47770535	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368201717	chr1:47770557-47770558	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147576532	chr1:47770582-47770583	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs199753420	chr1:47770590-47770591	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200974665	chr1:47770592-47770593	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 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
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
Prostate cancer	18632612	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47714400-47779200	Weak transcription	Small Intestine	intestine
2	chr1:47714600-47778400	Weak transcription	Fetal Heart	heart
3	chr1:47716600-47772600	Strong transcription	Dnd41	blood
4	chr1:47723400-47772400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:47730400-47770200	Weak transcription	Colonic Mucosa	Colon
6	chr1:47731400-47778000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:47735400-47779000	Weak transcription	Esophagus	oesophagus
8	chr1:47741400-47771400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:47741600-47770800	Strong transcription	Fetal Thymus	thymus
10	chr1:47741800-47770800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:47742600-47773000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:47742600-47773000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:47743800-47779200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:47744200-47779000	Weak transcription	Brain Angular Gyrus	brain
15	chr1:47744400-47779000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:47744800-47779000	Weak transcription	HSMMtube	muscle
17	chr1:47746200-47772000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:47746200-47778800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:47746600-47772200	Weak transcription	Ovary	ovary
20	chr1:47746600-47776400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:47746600-47778400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:47746600-47778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:47746600-47778400	Weak transcription	Fetal Brain Female	brain
24	chr1:47746800-47778800	Weak transcription	Placenta	Placenta
25	chr1:47749600-47777800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:47750000-47779200	Weak transcription	Right Atrium	heart
27	chr1:47755200-47779000	Weak transcription	Primary B cells from cord blood	blood
28	chr1:47755400-47778800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:47757400-47773000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:47757800-47771400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:47758000-47771000	Strong transcription	K562	blood
32	chr1:47760000-47772600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:47760800-47770600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:47763400-47778600	Weak transcription	Adipose Nuclei	Adipose
35	chr1:47763600-47779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:47763600-47779200	Weak transcription	Fetal Brain Male	brain
37	chr1:47764200-47770800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:47764200-47779000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:47764200-47779000	Weak transcription	Stomach Mucosa	stomach
40	chr1:47764400-47772600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:47764600-47771000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:47765000-47772600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:47765200-47770600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:47765200-47770600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:47765200-47771200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr1:47765400-47770400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr1:47765400-47770600	Strong transcription	HUVEC	blood vessel
48	chr1:47765400-47770800	Strong transcription	Osteobl	bone
49	chr1:47765400-47772600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr1:47765400-47773000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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