Variant report

Variant	esv15234
Chromosome Location	chr2:53681630-53687764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53687389..53688064-chr2:53942616..53943230,2	MCF-7	breast:
2	chr2:53678969..53680574-chr2:53681500..53683564,2	MCF-7	breast:
3	chr2:53115077..53117448-chr2:53686034..53688851,2	MCF-7	breast:
4	chr2:53678385..53681345-chr2:53681418..53682934,2	MCF-7	breast:
5	chr2:53687502..53690121-chr2:53692072..53694054,2	K562	blood:

Extended variants
information (count: 261 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554883253	chr2:53681633-53681634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574480249	chr2:53681634-53681635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13418811	chr2:53681661-53681662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs60179496	chr2:53681665-53681666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577285071	chr2:53681668-53681669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183976312	chr2:53681698-53681699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6747348	chr2:53681714-53681715	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561097579	chr2:53681756-53681757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527530492	chr2:53681757-53681758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541314262	chr2:53681776-53681777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561195255	chr2:53681779-53681780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74580172	chr2:53681790-53681791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12470776	chr2:53681791-53681792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543906785	chr2:53681795-53681796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569609453	chr2:53681862-53681863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79620076	chr2:53681867-53681868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552034335	chr2:53681888-53681889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368446354	chr2:53681904-53681905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532584680	chr2:53681937-53681938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548453738	chr2:53681962-53681963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568440194	chr2:53681980-53681981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537015778	chr2:53682034-53682035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557335609	chr2:53682046-53682047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577212371	chr2:53682106-53682107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4672432	chr2:53682107-53682108	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559838947	chr2:53682113-53682114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143984561	chr2:53682148-53682149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372796112	chr2:53682173-53682174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146438433	chr2:53682186-53682187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115620708	chr2:53682192-53682193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574792683	chr2:53682195-53682196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377013470	chr2:53682201-53682202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373754824	chr2:53682273-53682274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563293926	chr2:53682317-53682318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368872851	chr2:53682318-53682319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149099915	chr2:53682334-53682335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568603132	chr2:53682421-53682422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77524743	chr2:53682469-53682470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552233736	chr2:53682489-53682490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4672433	chr2:53682501-53682502	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs35423765	chr2:53682528-53682529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142225859	chr2:53682533-53682534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188968358	chr2:53682535-53682536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568376873	chr2:53682565-53682566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537343861	chr2:53682586-53682587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569405277	chr2:53682619-53682620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377194224	chr2:53682627-53682628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551028842	chr2:53682687-53682688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570806036	chr2:53682725-53682726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539474540	chr2:53682726-53682727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53673800-53687200	Weak transcription	Hela-S3	cervix
2	chr2:53678600-53682800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:53679200-53683600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:53680800-53682000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:53681200-53682400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:53681800-53682800	Enhancers	Placenta	Placenta
7	chr2:53682000-53682800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:53682400-53682600	Enhancers	Fetal Muscle Trunk	muscle
9	chr2:53682400-53682800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:53682600-53682800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:53682600-53683600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:53682800-53683800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:53682800-53683800	Weak transcription	Placenta	Placenta
14	chr2:53683400-53684000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:53684000-53684200	Enhancers	Placenta	Placenta
16	chr2:53687200-53688400	Enhancers	Hela-S3	cervix
17	chr2:53687400-53688400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:53687600-53688400	Enhancers	Stomach Smooth Muscle	stomach
19	chr2:53687600-53690000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links