Variant report

Variant	esv3441230
Chromosome Location	chr1:47052561-47052944
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	CEBPB	chr1:47052798-47052946	HepG2	liver:	n/a	chr1:47052824-47052835 chr1:47052823-47052834 chr1:47052823-47052836
2	CEBPB	chr1:47052798-47052838	K562	blood:	n/a	chr1:47052824-47052835 chr1:47052823-47052834 chr1:47052823-47052836
3	POLR2A	chr1:47052698-47053247	HL-60	blood:	n/a	n/a
4	POLR2A	chr1:47052738-47053217	HL-60	blood:	n/a	n/a
5	SPI1	chr1:47052708-47053276	HL-60	blood:	n/a	chr1:47052938-47052945 chr1:47052849-47052856
6	SPI1	chr1:47052759-47053155	HL-60	blood:	n/a	chr1:47052938-47052945 chr1:47052849-47052856

No.	Distal block	Cell Line	Cell type
1	chr1:47052682..47056987-chr1:47061043..47065460,4	K562	blood:
2	chr1:47028417..47031367-chr1:47051984..47053721,2	K562	blood:
3	chr1:47052104..47053858-chr1:47055220..47057402,2	K562	blood:

Variant related genes	Relation type
MKNK1	TF binding region
ENSG00000079277	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112292364	chr1:47052582-47052583	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565014163	chr1:47052670-47052671	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190189804	chr1:47052680-47052681	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550530184	chr1:47052696-47052697	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200723660	chr1:47052702-47052703	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569257723	chr1:47052725-47052726	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs542701856	chr1:47052762-47052763	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs61783123	chr1:47052766-47052767	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548873454	chr1:47052782-47052783	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573382904	chr1:47052826-47052827	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs12725240	chr1:47052895-47052896	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs12739751	chr1:47052910-47052911	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12759549	chr1:47052911-47052912	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs12738584	chr1:47052920-47052921	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567093852	chr1:47052928-47052929	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs534390366	chr1:47052936-47052937	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	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
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
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47021000-47057000	Weak transcription	Fetal Brain Male	brain
2	chr1:47021800-47054600	Weak transcription	A549	lung
3	chr1:47022400-47053600	Strong transcription	Thymus	Thymus
4	chr1:47023200-47060000	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:47023800-47053200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:47024000-47054800	Weak transcription	HUVEC	blood vessel
7	chr1:47025600-47062400	Weak transcription	Fetal Heart	heart
8	chr1:47035200-47053000	Strong transcription	Spleen	Spleen
9	chr1:47035600-47053400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:47036000-47056400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:47036000-47060000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:47036400-47053200	Strong transcription	Fetal Stomach	stomach
13	chr1:47037800-47057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:47038400-47053200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:47039000-47052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:47039000-47054800	Weak transcription	Hela-S3	cervix
17	chr1:47039200-47053000	Weak transcription	Right Atrium	heart
18	chr1:47039200-47060400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:47039600-47060000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:47040000-47053000	Strong transcription	Left Ventricle	heart
21	chr1:47040000-47053200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:47040200-47060400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:47040800-47053000	Strong transcription	NHEK	skin
24	chr1:47041000-47053600	Strong transcription	Aorta	Aorta
25	chr1:47041200-47053200	Strong transcription	Fetal Intestine Small	intestine
26	chr1:47041200-47054800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:47041600-47053200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:47042200-47057200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:47042400-47052800	Strong transcription	Colon Smooth Muscle	Colon
30	chr1:47042400-47057200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:47042600-47060400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr1:47042600-47069000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:47042800-47054600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:47042800-47056600	Weak transcription	Small Intestine	intestine
35	chr1:47042800-47068800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:47043600-47053600	Strong transcription	HMEC	breast
37	chr1:47045600-47068800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:47046200-47056400	Weak transcription	NH-A	brain
39	chr1:47046200-47069000	Weak transcription	Fetal Kidney	kidney
40	chr1:47046400-47055200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:47046400-47057200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:47046600-47054800	Weak transcription	Stomach Mucosa	stomach
43	chr1:47046800-47053000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:47046800-47053200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:47046800-47054800	Weak transcription	HSMM	muscle
46	chr1:47047200-47053600	Strong transcription	Lung	lung
47	chr1:47047600-47053400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:47047800-47053000	Strong transcription	Primary T cells from cord blood	blood
49	chr1:47047800-47053200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:47047800-47060000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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