Variant report

Variant	esv3357940
Chromosome Location	chr2:46694036-46694402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46693043..46695866-chr2:46768148..46769721,2	MCF-7	breast:
2	chr2:46688831..46694095-chr2:46695879..46699021,6	K562	blood:
3	chr2:46683036..46684677-chr2:46693619..46695195,2	K562	blood:
4	chr2:46691531..46694095-chr2:46695293..46698690,3	K562	blood:
5	chr2:46693283..46695227-chr2:46712341..46714395,2	K562	blood:
6	chr2:46694377..46696235-chr2:46839785..46842336,2	MCF-7	breast:
7	chr2:46693342..46696123-chr5:77522105..77524620,2	K562	blood:

Variant related genes	Relation type
ENSG00000250565	chromatin interactions
ENSG00000119729	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 71 )

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	rs564677450	chr2:46694042-46694043	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs34879307	chr2:46694085-46694086	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377651159	chr2:46694088-46694089	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543952725	chr2:46694092-46694093	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369453551	chr2:46694129-46694130	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563745942	chr2:46694134-46694135	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529310600	chr2:46694137-46694138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149983248	chr2:46694140-46694141	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs565876458	chr2:46694149-46694150	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528384147	chr2:46694158-46694159	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs145098224	chr2:46694200-46694201	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373960510	chr2:46694226-46694227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548424629	chr2:46694239-46694240	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184637949	chr2:46694274-46694275	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs77615109	chr2:46694276-46694277	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556639517	chr2:46694281-46694282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566981844	chr2:46694301-46694302	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188178367	chr2:46694304-46694305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114806197	chr2:46694337-46694338	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192469329	chr2:46694364-46694365	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46686400-46704400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:46689000-46696800	Weak transcription	K562	blood
3	chr2:46689200-46696600	Weak transcription	Fetal Thymus	thymus
4	chr2:46689200-46698600	Weak transcription	Hela-S3	cervix
5	chr2:46689200-46704800	Weak transcription	Placenta	Placenta
6	chr2:46689200-46714800	Weak transcription	Right Atrium	heart
7	chr2:46689800-46697000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:46689800-46697400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:46690000-46696800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:46691600-46696800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:46691800-46695800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:46691800-46696400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:46691800-46696400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:46691800-46696400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:46691800-46696800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:46692000-46696800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:46692000-46702600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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