Variant report

Variant	esv20666
Chromosome Location	chr2:53671457-53687640
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	chr2:53678385..53681345-chr2:53681418..53682934,2	MCF-7	breast:
2	chr2:53665612..53667595-chr2:53670041..53672897,2	K562	blood:
3	chr2:53678969..53680574-chr2:53681500..53683564,2	MCF-7	breast:
4	chr2:53115077..53117448-chr2:53686034..53688851,2	MCF-7	breast:
5	chr2:53678385..53681345-chr2:53681418..53682934,2	MCF-7	breast:
6	chr2:53678969..53680574-chr2:53681500..53683564,2	MCF-7	breast:
7	chr2:53669776..53671843-chr2:53678580..53680158,2	K562	blood:
8	chr2:53669776..53671843-chr2:53678580..53680158,2	K562	blood:
9	chr2:53673791..53676417-chr2:53697464..53700421,2	K562	blood:
10	chr2:53687389..53688064-chr2:53942616..53943230,2	MCF-7	breast:
11	chr2:53687502..53690121-chr2:53692072..53694054,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251942	chromatin interactions

Extended variants
information (count: 670 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546117416	chr2:53671478-53671479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559726465	chr2:53671526-53671527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78115584	chr2:53671535-53671536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548466128	chr2:53671536-53671537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11891803	chr2:53671548-53671549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149038655	chr2:53671552-53671553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550714362	chr2:53671561-53671562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143041239	chr2:53671575-53671576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570705342	chr2:53671608-53671609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539683483	chr2:53671628-53671629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148268385	chr2:53671693-53671694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141891156	chr2:53671734-53671735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113232473	chr2:53671736-53671737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570765436	chr2:53671797-53671798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555751107	chr2:53671799-53671800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78718820	chr2:53671836-53671837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138037871	chr2:53671847-53671848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558331298	chr2:53671852-53671853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577103955	chr2:53671866-53671867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191412458	chr2:53671906-53671907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142830679	chr2:53671908-53671909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528402318	chr2:53671922-53671923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541419830	chr2:53671944-53671945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12999083	chr2:53671959-53671960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs77955362	chr2:53671984-53671985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76341640	chr2:53672046-53672047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13025722	chr2:53672054-53672055	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs369667838	chr2:53672107-53672108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546809009	chr2:53672108-53672109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567021075	chr2:53672123-53672124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536159003	chr2:53672141-53672142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150647271	chr2:53672148-53672149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569233686	chr2:53672162-53672163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538285065	chr2:53672268-53672269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11401913	chr2:53672324-53672325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532810279	chr2:53672325-53672326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397692149	chr2:53672338-53672339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558270279	chr2:53672362-53672363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570063469	chr2:53672430-53672431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539616442	chr2:53672445-53672446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553141157	chr2:53672446-53672447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113038551	chr2:53672459-53672460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573006427	chr2:53672511-53672512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544642064	chr2:53672543-53672544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79500894	chr2:53672663-53672664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557683685	chr2:53672779-53672780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4330141	chr2:53672814-53672815	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184619181	chr2:53672854-53672855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs6732841	chr2:53672887-53672888	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189504610	chr2:53672950-53672951	Weak transcription Enhancers Flanking Active TSS	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53665600-53672800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:53665800-53672800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:53667800-53675000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:53669600-53679800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:53670000-53672200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:53671400-53672800	Enhancers	Hela-S3	cervix
7	chr2:53671400-53673800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:53672000-53672600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:53672000-53673000	Enhancers	Stomach Mucosa	stomach
10	chr2:53672200-53673000	Enhancers	HSMM	muscle
11	chr2:53672200-53673200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:53672200-53673200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:53672200-53673200	Enhancers	NH-A	brain
14	chr2:53672400-53673200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:53672600-53673000	Enhancers	HMEC	breast
16	chr2:53672800-53673000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:53672800-53673200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:53672800-53673200	Enhancers	Stomach Smooth Muscle	stomach
19	chr2:53672800-53673200	Flanking Active TSS	Hela-S3	cervix
20	chr2:53672800-53673200	Enhancers	NHLF	lung
21	chr2:53672800-53673200	Enhancers	Osteobl	bone
22	chr2:53672800-53673400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:53673000-53673600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:53673200-53673800	Enhancers	Hela-S3	cervix
25	chr2:53673200-53680400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:53673800-53679200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:53673800-53687200	Weak transcription	Hela-S3	cervix
28	chr2:53675000-53675600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:53677200-53677400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:53677400-53678000	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:53678000-53681200	Enhancers	Fetal Muscle Leg	muscle
32	chr2:53678200-53678400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:53678200-53678600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:53678200-53678600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr2:53678200-53678600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:53678400-53679000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr2:53678600-53682800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:53679000-53680000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:53679200-53683600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:53679600-53680800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:53679800-53680000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:53679800-53681200	Enhancers	Fetal Heart	heart
43	chr2:53680000-53680600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:53680000-53680800	Enhancers	Colon Smooth Muscle	Colon
45	chr2:53680000-53681000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:53680000-53681000	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:53680200-53680400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr2:53680200-53680600	Enhancers	Liver	Liver
49	chr2:53680200-53680800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:53680200-53680800	Enhancers	Skeletal Muscle Male	skeletal muscle

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