Variant report

Variant	esv3445763
Chromosome Location	chr2:47485075-47485305
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47401084..47403383-chr2:47484393..47487548,4	K562	blood:
2	chr2:47484144..47487627-chr2:47488980..47491395,3	K562	blood:
3	chr2:47473511..47478428-chr2:47483950..47488018,4	MCF-7	breast:
4	chr2:47399035..47407354-chr2:47479551..47494841,29	MCF-7	breast:
5	chr2:47399224..47401292-chr2:47482890..47486794,3	MCF-7	breast:
6	chr2:47400516..47406880-chr2:47471949..47486822,24	K562	blood:
7	chr2:47478646..47481044-chr2:47483765..47486319,2	MCF-7	breast:
8	chr2:47484967..47487278-chr2:47489027..47491218,2	MCF-7	breast:
9	chr2:47484907..47487691-chr2:47537998..47540453,2	MCF-7	breast:
10	chr2:47401545..47404971-chr2:47483615..47487701,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146604474	chr2:47485102-47485103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs185211929	chr2:47485115-47485116	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540690065	chr2:47485125-47485126	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115114727	chr2:47485126-47485127	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375707821	chr2:47485133-47485134	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11896275	chr2:47485134-47485135	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35416942	chr2:47485150-47485151	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530571154	chr2:47485151-47485152	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112597803	chr2:47485174-47485175	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369709687	chr2:47485212-47485213	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549430924	chr2:47485213-47485214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143278663	chr2:47485230-47485231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534424491	chr2:47485240-47485241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546259214	chr2:47485256-47485257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188072688	chr2:47485271-47485272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535275962	chr2:47485274-47485275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538114359	chr2:47485277-47485278	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549807456	chr2:47485280-47485281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550017098	chr2:47485290-47485291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146614604	chr2:47485294-47485295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
early-passage human iPS cells	21368824	CNVD
Colorectal cancer	17569143	CNVD
Hereditary non-polyposis colorectal cancer	16941473	CNVD
Lynch syndrome	16541406	CNVD
Non-syndromic sensorineural hearing loss	19173287	CNVD
Hereditary non-polyposis colorectal cancer	17228328	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Lynch syndrome	20937110	CNVD
Breast cancer	20616022	CNVD
Colorectal cancer	18708397	CNVD
Endometrial cancer	18708397	CNVD
Lynch syndrome	18708397	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47477000-47491400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:47477200-47491200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:47478800-47487400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:47478800-47496400	Weak transcription	Hela-S3	cervix
5	chr2:47480000-47486600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:47482400-47489400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:47482400-47491400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:47483400-47485200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:47483400-47485600	Enhancers	HSMM	muscle
10	chr2:47483400-47485800	Enhancers	HSMMtube	muscle
11	chr2:47483800-47485200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:47483800-47492000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:47484000-47487200	Weak transcription	Spleen	Spleen
14	chr2:47484000-47487800	Weak transcription	Placenta	Placenta
15	chr2:47484200-47485400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:47484200-47491200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:47484200-47491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:47484600-47485400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:47485000-47485200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:47485000-47485200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:47485000-47485200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:47485000-47485600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:47485000-47485600	Enhancers	GM12878-XiMat	blood
24	chr2:47485200-47486000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:47485200-47491200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:47485200-47491200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:47485200-47491400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:47485200-47491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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