Variant report

Variant	esv3434990
Chromosome Location	chr2:20711579-20711927
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20672482..20676692-chr2:20708404..20712337,6	MCF-7	breast:
2	chr2:20703282..20708679-chr2:20709033..20714740,6	MCF-7	breast:
3	chr2:20709364..20711957-chr2:20717904..20721364,4	MCF-7	breast:
4	chr2:20645469..20648554-chr2:20711081..20713863,4	MCF-7	breast:
5	chr2:20646792..20648599-chr2:20709745..20713601,3	MCF-7	breast:
6	chr2:20649190..20652526-chr2:20709786..20711592,3	MCF-7	breast:
7	chr2:20705997..20708328-chr2:20710442..20712863,2	K562	blood:
8	chr2:20707093..20712027-chr2:20723399..20727763,6	MCF-7	breast:
9	chr2:20709959..20713147-chr2:20833263..20835547,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143878	chromatin interactions
ENSG00000228950	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58949447	chr2:20711587-20711588	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs545150702	chr2:20711597-20711598	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558721801	chr2:20711602-20711603	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115601871	chr2:20711639-20711640	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539402433	chr2:20711645-20711646	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543882515	chr2:20711653-20711654	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs71391765	chr2:20711654-20711655	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11096667	chr2:20711656-20711657	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs33998061	chr2:20711657-20711658	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529623927	chr2:20711660-20711661	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs342135	chr2:20711702-20711703	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560144649	chr2:20711707-20711708	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs16987713	chr2:20711719-20711720	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73227401	chr2:20711761-20711762	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73916843	chr2:20711773-20711774	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77568263	chr2:20711774-20711775	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531562577	chr2:20711785-20711786	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189863464	chr2:20711811-20711812	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545756469	chr2:20711832-20711833	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567762180	chr2:20711841-20711842	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142128230	chr2:20711842-20711843	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377072710	chr2:20711867-20711868	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566798743	chr2:20711926-20711927	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20692400-20715200	Weak transcription	Right Atrium	heart
2	chr2:20697000-20714000	Weak transcription	Right Ventricle	heart
3	chr2:20697200-20714200	Weak transcription	HSMMtube	muscle
4	chr2:20706600-20715200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:20706600-20715800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:20707200-20713800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:20707400-20713800	Weak transcription	NH-A	brain
8	chr2:20707400-20714000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:20707400-20714000	Weak transcription	HSMM	muscle
10	chr2:20707400-20723400	Weak transcription	Spleen	Spleen
11	chr2:20707600-20713800	Weak transcription	NHLF	lung
12	chr2:20708000-20713800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:20708800-20712400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:20709000-20712000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:20709400-20711600	Weak transcription	Esophagus	oesophagus
16	chr2:20709400-20712000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:20709400-20715800	Weak transcription	Gastric	stomach
18	chr2:20710000-20714000	Weak transcription	Osteobl	bone
19	chr2:20710000-20715600	Weak transcription	Pancreas	Pancrea
20	chr2:20710200-20712000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:20710200-20714000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:20710200-20715800	Weak transcription	Lung	lung
23	chr2:20710400-20711600	Enhancers	HepG2	liver
24	chr2:20710400-20711800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:20710400-20713400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:20710400-20713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:20710400-20713800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:20710600-20712000	Enhancers	Fetal Muscle Leg	muscle
29	chr2:20710600-20713800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:20710600-20713800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:20710800-20711600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:20710800-20711600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:20710800-20713800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:20710800-20714200	Enhancers	Hela-S3	cervix
35	chr2:20710800-20715200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:20711000-20713800	Weak transcription	HMEC	breast
37	chr2:20711200-20711600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:20711200-20712000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:20711200-20712000	Enhancers	Fetal Muscle Trunk	muscle
40	chr2:20711200-20713800	Weak transcription	NHEK	skin
41	chr2:20711400-20712000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:20711400-20714000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:20711400-20715200	Weak transcription	Brain Anterior Caudate	brain
44	chr2:20711400-20716800	Enhancers	Placenta	Placenta
45	chr2:20711600-20712200	Enhancers	Esophagus	oesophagus
46	chr2:20711600-20713400	Weak transcription	HepG2	liver
47	chr2:20711600-20714400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:20711600-20716400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:20711800-20713800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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