Variant report

Variant	esv3367765
Chromosome Location	chr1:47800989-47801230
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47778595..47781681-chr1:47798356..47800996,6	MCF-7	breast:
2	chr1:47696136..47700063-chr1:47798634..47802913,8	K562	blood:
3	chr1:47696333..47699229-chr1:47798340..47801363,4	K562	blood:
4	chr1:47655819..47657436-chr1:47799137..47801227,2	K562	blood:
5	chr1:47758513..47761488-chr1:47799880..47802069,3	K562	blood:
6	chr1:47799650..47801190-chr1:47846011..47848382,2	K562	blood:
7	chr1:47647073..47651610-chr1:47798272..47801392,5	K562	blood:
8	chr1:47799619..47801887-chr1:47831547..47833405,2	K562	blood:
9	chr1:47654478..47656007-chr1:47798811..47801587,2	MCF-7	breast:
10	chr1:47772551..47781833-chr1:47797933..47806586,42	K562	blood:
11	chr1:47765608..47767476-chr1:47799795..47801980,2	K562	blood:
12	chr1:47800841..47802489-chr1:47901658..47903187,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162367	chromatin interactions
ENSG00000162366	chromatin interactions
ENSG00000123473	chromatin interactions
ENSG00000186564	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187027596	chr1:47801035-47801036	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs144272161	chr1:47801045-47801046	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs4926824	chr1:47801049-47801050	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs557375060	chr1:47801072-47801073	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs569309741	chr1:47801085-47801086	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs536604501	chr1:47801090-47801091	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs555253660	chr1:47801110-47801111	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs573846438	chr1:47801123-47801124	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs540891119	chr1:47801153-47801154	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs536110172	chr1:47801170-47801171	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs192923181	chr1:47801180-47801181	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs141333342	chr1:47801185-47801186	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs185064674	chr1:47801204-47801205	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 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:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47798200-47801000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr1:47798400-47801000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:47798600-47801000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:47798600-47801200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:47798800-47801000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:47798800-47801000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:47798800-47801000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:47798800-47801000	Active TSS	Thymus	Thymus
9	chr1:47798800-47801200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:47798800-47801200	Active TSS	HSMM	muscle
11	chr1:47799000-47801000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:47799000-47801000	Active TSS	Psoas Muscle	Psoas
13	chr1:47799000-47801200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:47799000-47801800	Active TSS	K562	blood
15	chr1:47799200-47801000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:47799200-47801000	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr1:47799200-47801000	Active TSS	Small Intestine	intestine
18	chr1:47799200-47801200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:47799200-47801200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:47799200-47802400	Active TSS	GM12878-XiMat	blood
21	chr1:47799600-47801000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
22	chr1:47800000-47801200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:47800000-47801200	Active TSS	Right Atrium	heart
24	chr1:47800000-47801200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:47800200-47801000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr1:47800400-47801000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:47800400-47801000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr1:47800400-47801000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr1:47800400-47801000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr1:47800400-47801000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:47800400-47801000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr1:47800400-47801000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr1:47800400-47801000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:47800400-47801000	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr1:47800400-47801000	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr1:47800400-47801000	Flanking Active TSS	Fetal Brain Male	brain
37	chr1:47800400-47801000	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr1:47800400-47801000	Flanking Active TSS	Fetal Stomach	stomach
39	chr1:47800400-47801000	Flanking Active TSS	Fetal Thymus	thymus
40	chr1:47800400-47801000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr1:47800400-47801000	Flanking Active TSS	HUVEC	blood vessel
42	chr1:47800400-47801000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr1:47800400-47801000	Flanking Active TSS	NH-A	brain
44	chr1:47800400-47801000	Flanking Active TSS	NHLF	lung
45	chr1:47800400-47801200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:47800400-47801200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr1:47800400-47801200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:47800400-47834600	Weak transcription	Spleen	Spleen
49	chr1:47800600-47801000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:47800600-47801000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links