Variant report

Variant	esv2622685
Chromosome Location	chr2:54953935-54955417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54948698..54952198-chr2:54955157..54959023,4	K562	blood:
2	chr2:54948600..54951021-chr2:54954869..54956715,2	K562	blood:
3	chr2:54938681..54941636-chr2:54954497..54956730,2	K562	blood:

Variant related genes	Relation type
ENSG00000214595	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186420076	chr2:54953992-54953993	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62134744	chr2:54954016-54954017	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541210902	chr2:54954017-54954018	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs74989651	chr2:54954025-54954026	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs139181832	chr2:54954026-54954027	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs354240	chr2:54954059-54954060	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563145289	chr2:54954082-54954083	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565104051	chr2:54954083-54954084	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs13419761	chr2:54954104-54954105	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs58878579	chr2:54954156-54954157	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs374558223	chr2:54954174-54954175	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs567495525	chr2:54954188-54954189	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs182925587	chr2:54954200-54954201	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548399080	chr2:54954203-54954204	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs568280575	chr2:54954235-54954236	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537157753	chr2:54954307-54954308	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs551007629	chr2:54954312-54954313	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs570805046	chr2:54954315-54954316	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs539809851	chr2:54954317-54954318	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558613171	chr2:54954320-54954321	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs186613561	chr2:54954433-54954434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534887647	chr2:54954510-54954511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376300357	chr2:54954549-54954550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142994421	chr2:54954565-54954566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574642364	chr2:54954576-54954577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72913526	chr2:54954587-54954588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373600303	chr2:54954672-54954673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557014447	chr2:54954699-54954700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376240190	chr2:54954700-54954701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564368222	chr2:54954728-54954729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76382474	chr2:54954769-54954770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs354239	chr2:54954824-54954825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs559060522	chr2:54954828-54954829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528776415	chr2:54954862-54954863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542077978	chr2:54954882-54954883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374300692	chr2:54954885-54954886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs531006848	chr2:54954930-54954931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201505458	chr2:54954942-54954943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147023907	chr2:54955079-54955080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570907578	chr2:54955116-54955117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs76183388	chr2:54955179-54955180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148089335	chr2:54955206-54955207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191315607	chr2:54955248-54955249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183181288	chr2:54955274-54955275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373418570	chr2:54955351-54955352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141979361	chr2:54955371-54955372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150697875	chr2:54955385-54955386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs537237152	chr2:54955392-54955393	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556808786	chr2:54955395-54955396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung adenocarcinoma	17086460	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
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54950200-54954400	Active TSS	Brain Angular Gyrus	brain
2	chr2:54950400-54954000	Active TSS	Fetal Brain Female	brain
3	chr2:54952600-54955400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:54952600-54955600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:54952800-54955200	Weak transcription	HSMM	muscle
6	chr2:54953200-54954200	Enhancers	Brain Anterior Caudate	brain
7	chr2:54953200-54955000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:54953400-54954000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:54953400-54954800	Weak transcription	HepG2	liver
10	chr2:54953400-54955400	Weak transcription	HSMMtube	muscle
11	chr2:54953600-54956600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:54953800-54954400	Enhancers	Hela-S3	cervix
13	chr2:54954000-54954200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:54954000-54954400	Enhancers	HMEC	breast
15	chr2:54954000-54954400	Enhancers	NHEK	skin
16	chr2:54954000-54954600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:54954200-54954400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:54954200-54955400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:54954400-54955400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:54954400-54955400	Weak transcription	Hela-S3	cervix
21	chr2:54954400-54955400	Weak transcription	HMEC	breast
22	chr2:54954400-54955400	Weak transcription	NHEK	skin
23	chr2:54954600-54958600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:54954600-54965000	Weak transcription	Fetal Intestine Small	intestine
25	chr2:54954800-54956800	Enhancers	HepG2	liver
26	chr2:54955000-54955200	Enhancers	Fetal Brain Female	brain
27	chr2:54955000-54956800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:54955000-54956800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:54955200-54956200	Enhancers	A549	lung
30	chr2:54955200-54956600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:54955200-54956600	Enhancers	NH-A	brain
32	chr2:54955200-54956800	Enhancers	HSMM	muscle
33	chr2:54955400-54955600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:54955400-54956200	Enhancers	HUVEC	blood vessel
35	chr2:54955400-54956400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:54955400-54956600	Enhancers	NHEK	skin
37	chr2:54955400-54956600	Enhancers	NHLF	lung
38	chr2:54955400-54956600	Enhancers	Osteobl	bone
39	chr2:54955400-54956800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:54955400-54956800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:54955400-54956800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:54955400-54956800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:54955400-54956800	Enhancers	HMEC	breast
44	chr2:54955400-54956800	Enhancers	NHDF-Ad	bronchial
45	chr2:54955400-54957000	Enhancers	Hela-S3	cervix
46	chr2:54955400-54957000	Enhancers	HSMMtube	muscle

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