Variant report

Variant	esv2751897
Chromosome Location	chr2:53358205-53475338
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:53451477..53452177-chr8:142138238..142138852,2	MCF-7	breast:
2	chr2:53037360..53037874-chr2:53428995..53429598,2	MCF-7	breast:
3	chr2:53460268..53462770-chr2:53469491..53472364,2	MCF-7	breast:
4	chr2:53417876..53420740-chr2:53421996..53424053,2	MCF-7	breast:
5	chr2:53474174..53476615-chr2:53992818..53995812,2	K562	blood:
6	chr2:53417876..53420740-chr2:53421996..53424053,2	MCF-7	breast:
7	chr2:53460268..53462770-chr2:53469491..53472364,2	MCF-7	breast:
8	chr2:53363717..53366241-chr2:53367995..53370681,2	K562	blood:
9	chr2:53405292..53406981-chr2:53407516..53409368,2	K562	blood:
10	chr2:53405292..53406981-chr2:53407516..53409368,2	K562	blood:
11	chr2:53363717..53366241-chr2:53367995..53370681,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143942	chromatin interactions
ENSG00000115239	chromatin interactions
ENSG00000105339	chromatin interactions

Extended variants
information (count: 3874 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3874 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13414722	chr2:53358205-53358206	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554016474	chr2:53358207-53358208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72904114	chr2:53358257-53358258	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540609152	chr2:53358259-53358260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555049789	chr2:53358260-53358261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184207889	chr2:53358271-53358272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72904116	chr2:53358284-53358285	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557494732	chr2:53358292-53358293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17267762	chr2:53358305-53358306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576914412	chr2:53358369-53358370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72904119	chr2:53358399-53358400	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188363167	chr2:53358408-53358409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35915735	chr2:53358426-53358427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573882292	chr2:53358430-53358431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78369904	chr2:53358433-53358434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562692777	chr2:53358453-53358454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193182367	chr2:53358527-53358528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562699552	chr2:53358553-53358554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551831889	chr2:53358603-53358604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531777996	chr2:53358643-53358644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184673731	chr2:53358647-53358648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527644914	chr2:53358648-53358649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76111175	chr2:53358665-53358666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187030837	chr2:53358672-53358673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17044134	chr2:53358680-53358681	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550151039	chr2:53358704-53358705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570207534	chr2:53358708-53358709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532918835	chr2:53358724-53358725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537563498	chr2:53358734-53358735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191846286	chr2:53358740-53358741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577572582	chr2:53358742-53358743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183601746	chr2:53358751-53358752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188449292	chr2:53358755-53358756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546540981	chr2:53358763-53358764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181919791	chr2:53358803-53358804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185809313	chr2:53358811-53358812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562571458	chr2:53358833-53358834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113575733	chr2:53358861-53358862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545186529	chr2:53358867-53358868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74683126	chr2:53358887-53358888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17267769	chr2:53358905-53358906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs189934992	chr2:53358907-53358908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2034254	chr2:53358953-53358954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs181661399	chr2:53358986-53358987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550419128	chr2:53359009-53359010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570169075	chr2:53359012-53359013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78769090	chr2:53359017-53359018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551188208	chr2:53359079-53359080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571413877	chr2:53359109-53359110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186856633	chr2:53359120-53359121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53338400-53362600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53354600-53360200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:53356000-53358800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:53356600-53359000	Enhancers	Osteobl	bone
5	chr2:53356600-53359200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:53356600-53359200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:53356600-53359200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:53356600-53359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:53356600-53359200	Enhancers	Hela-S3	cervix
10	chr2:53356600-53359200	Enhancers	HSMM	muscle
11	chr2:53356600-53359200	Enhancers	HSMMtube	muscle
12	chr2:53356600-53359400	Enhancers	HMEC	breast
13	chr2:53356600-53359400	Enhancers	NHEK	skin
14	chr2:53356800-53359200	Enhancers	NHDF-Ad	bronchial
15	chr2:53356800-53359400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:53357000-53358400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:53357000-53358800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:53357000-53359200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:53357400-53359200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:53357400-53359400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:53357600-53358800	Weak transcription	NHLF	lung
22	chr2:53357800-53358800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:53357800-53358800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:53357800-53362000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:53358000-53360200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:53358200-53359200	Enhancers	NH-A	brain
27	chr2:53358400-53358800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:53358400-53359200	Enhancers	HUVEC	blood vessel
29	chr2:53358800-53359200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:53358800-53359200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:53358800-53359200	Enhancers	NHLF	lung
32	chr2:53358800-53362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:53359000-53359200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr2:53359200-53360200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:53360200-53360400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:53360200-53360800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:53360400-53360600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:53360400-53362000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:53361800-53362200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:53362000-53362600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:53362000-53362800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:53362000-53363000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:53362200-53362600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:53362600-53362800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:53362600-53362800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:53362800-53368000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:53365200-53365600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:53368200-53368600	Enhancers	Fetal Lung	lung
49	chr2:53375600-53376000	Enhancers	Fetal Lung	lung
50	chr2:53375800-53376000	Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links