Variant report

Variant	esv2030538
Chromosome Location	chr2:20971356-20971779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20964826..20967309-chr2:20970914..20972699,2	K562	blood:
2	chr2:20969082..20971469-chr2:20973504..20975005,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536622606	chr2:20971379-20971380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201754855	chr2:20971392-20971393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115795727	chr2:20971400-20971401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565543978	chr2:20971436-20971437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535538148	chr2:20971441-20971442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544769235	chr2:20971475-20971476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190389828	chr2:20971476-20971477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116077743	chr2:20971499-20971500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546336122	chr2:20971515-20971516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145868731	chr2:20971519-20971520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559816626	chr2:20971537-20971538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377346098	chr2:20971552-20971553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16988048	chr2:20971553-20971554	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375618212	chr2:20971554-20971555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201991845	chr2:20971556-20971557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62123875	chr2:20971560-20971561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200807556	chr2:20971564-20971565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201787443	chr2:20971565-20971566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202192693	chr2:20971567-20971568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200295392	chr2:20971568-20971569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112932084	chr2:20971595-20971596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6146670	chr2:20971605-20971606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568792566	chr2:20971607-20971608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111722257	chr2:20971633-20971634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149550058	chr2:20971635-20971636	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377437805	chr2:20971664-20971665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs634177	chr2:20971681-20971682	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs533996415	chr2:20971682-20971683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553475488	chr2:20971684-20971685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566987202	chr2:20971762-20971763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20899800-20972400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:20902400-20971800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:20917600-20971800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:20926200-20977000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:20926400-20995000	Weak transcription	Hela-S3	cervix
6	chr2:20937200-20974400	Weak transcription	HSMM	muscle
7	chr2:20946600-20972200	Weak transcription	Esophagus	oesophagus
8	chr2:20949200-20979200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:20950600-20971600	Weak transcription	Fetal Kidney	kidney
10	chr2:20951000-20972400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:20951600-20973600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:20951800-20993200	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:20952800-20972200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:20952800-20972400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:20952800-20974000	Weak transcription	A549	lung
16	chr2:20952800-20990400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:20953000-20972200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:20953000-20989400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:20954200-21001200	Weak transcription	NH-A	brain
20	chr2:20957800-20973600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:20957800-20988400	Weak transcription	Left Ventricle	heart
22	chr2:20957800-20988800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:20958400-20977600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:20958600-20995800	Weak transcription	HMEC	breast
25	chr2:20959000-20995400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:20959200-20973600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:20959200-20997000	Weak transcription	Brain Substantia Nigra	brain
28	chr2:20959800-20972800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:20960400-20977200	Weak transcription	Stomach Mucosa	stomach
30	chr2:20960600-20972200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:20960600-20972200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:20960600-20983600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:20960600-20989200	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:20960800-20971800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:20960800-20972200	Weak transcription	Liver	Liver
36	chr2:20960800-20973000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:20960800-20978200	Weak transcription	NHEK	skin
38	chr2:20960800-20989000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:20960800-20996200	Weak transcription	HSMMtube	muscle
40	chr2:20961000-20972000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:20961200-20973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:20961400-20971600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:20961400-20972200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:20961400-20972800	Weak transcription	K562	blood
45	chr2:20963400-20974000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:20963400-20976600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:20964000-20981600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:20964000-20996000	Weak transcription	Osteobl	bone
49	chr2:20965400-20972400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:20965600-20982400	Weak transcription	NHLF	lung

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