Variant report

Variant	esv3409996
Chromosome Location	chr1:47068523-47068987
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47068429..47072503-chr1:47081068..47085092,4	MCF-7	breast:
2	chr1:47053959..47056132-chr1:47066697..47069062,3	K562	blood:
3	chr1:47066512..47069474-chr1:47070954..47073416,4	K562	blood:
4	chr1:47054632..47056967-chr1:47067428..47069828,2	K562	blood:
5	chr1:47041717..47044206-chr1:47067000..47069818,2	K562	blood:
6	chr1:47033343..47035201-chr1:47067108..47069992,2	K562	blood:
7	chr1:47068203..47069866-chr1:47187301..47190738,3	MCF-7	breast:
8	chr1:47053775..47056193-chr1:47067460..47069823,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000079277	chromatin interactions
ENSG00000142961	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 90 )

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	rs1258018	chr1:47068526-47068527	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111851479	chr1:47068527-47068528	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546530764	chr1:47068537-47068538	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs56327178	chr1:47068554-47068555	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150408536	chr1:47068569-47068570	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs12022855	chr1:47068584-47068585	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs575188794	chr1:47068613-47068614	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs58949484	chr1:47068636-47068637	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10890406	chr1:47068677-47068678	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs566362791	chr1:47068713-47068714	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189112963	chr1:47068722-47068723	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs117358318	chr1:47068745-47068746	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540378936	chr1:47068766-47068767	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565419571	chr1:47068768-47068769	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577166449	chr1:47068799-47068800	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs36104147	chr1:47068975-47068976	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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	21990379	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47042600-47069000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:47042800-47068800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:47045600-47068800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:47046200-47069000	Weak transcription	Fetal Kidney	kidney
5	chr1:47048400-47069000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:47050600-47068600	Weak transcription	NHDF-Ad	bronchial
7	chr1:47055400-47068800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:47056600-47068800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:47057000-47069000	Weak transcription	NH-A	brain
10	chr1:47057600-47069000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:47058000-47068600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:47058600-47069200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:47058800-47068600	Weak transcription	Fetal Lung	lung
14	chr1:47058800-47068600	Weak transcription	Hela-S3	cervix
15	chr1:47059000-47068800	Weak transcription	Ovary	ovary
16	chr1:47059000-47068800	Weak transcription	HUVEC	blood vessel
17	chr1:47059200-47068600	Weak transcription	Colonic Mucosa	Colon
18	chr1:47059200-47068600	Weak transcription	Fetal Brain Female	brain
19	chr1:47059200-47068800	Weak transcription	A549	lung
20	chr1:47059600-47068600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:47059800-47068600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:47059800-47068600	Weak transcription	Placenta	Placenta
23	chr1:47059800-47068800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:47059800-47068800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:47059800-47069000	Weak transcription	HSMMtube	muscle
26	chr1:47060000-47068600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:47060000-47068600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:47060000-47068600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:47060000-47068800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:47060000-47068800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:47060000-47068800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:47060000-47069000	Weak transcription	Fetal Intestine Small	intestine
33	chr1:47060000-47069000	Weak transcription	Fetal Stomach	stomach
34	chr1:47060400-47069000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:47061200-47068600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:47061200-47068800	Weak transcription	HSMM	muscle
37	chr1:47061400-47068600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:47061400-47068600	Weak transcription	Osteobl	bone
39	chr1:47061600-47068600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:47061600-47068600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:47062000-47068600	Weak transcription	Primary B cells from cord blood	blood
42	chr1:47063600-47068600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:47064800-47068600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:47064800-47068600	Weak transcription	Brain Germinal Matrix	brain
45	chr1:47065000-47068600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:47065000-47068600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr1:47065000-47068600	Enhancers	Adipose Nuclei	Adipose
48	chr1:47065200-47068800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:47065400-47068600	Weak transcription	Brain Anterior Caudate	brain
50	chr1:47065400-47068800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links