Variant report

Variant	nsv961708
Chromosome Location	chr2:20144399-20147171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20146475..20148422-chr2:20299562..20301684,2	K562	blood:
2	chr2:20135593..20137706-chr2:20143869..20146190,2	MCF-7	breast:
3	chr2:20138877..20140913-chr2:20142589..20144773,2	MCF-7	breast:
4	chr2:20138433..20141277-chr2:20142757..20144627,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543499128	chr2:20144412-20144413	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563422652	chr2:20144460-20144461	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140566982	chr2:20144465-20144466	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113508716	chr2:20144474-20144475	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114983462	chr2:20144500-20144501	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150058273	chr2:20144511-20144512	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528338260	chr2:20144538-20144539	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551663574	chr2:20144654-20144655	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370697306	chr2:20144772-20144773	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564275730	chr2:20144848-20144849	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533410089	chr2:20144969-20144970	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549853690	chr2:20144984-20144985	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35432741	chr2:20144987-20144988	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560162812	chr2:20145033-20145034	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535632067	chr2:20145061-20145062	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549138632	chr2:20145155-20145156	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35624398	chr2:20145167-20145168	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566279433	chr2:20145168-20145169	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145430801	chr2:20145258-20145259	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35497121	chr2:20145265-20145266	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575665928	chr2:20145436-20145437	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577566207	chr2:20145439-20145440	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72779364	chr2:20145461-20145462	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182039895	chr2:20145465-20145466	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372451709	chr2:20145498-20145499	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573747588	chr2:20145501-20145502	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187081507	chr2:20145525-20145526	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376710057	chr2:20145531-20145532	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572995743	chr2:20145538-20145539	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs267607174	chr2:20145548-20145549	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145227520	chr2:20145568-20145569	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149125542	chr2:20145586-20145587	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147608502	chr2:20145595-20145596	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201182120	chr2:20145606-20145607	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10153584	chr2:20145608-20145609	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146130105	chr2:20145637-20145638	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189976823	chr2:20145650-20145651	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549648027	chr2:20145673-20145674	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200271646	chr2:20145683-20145684	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140043741	chr2:20145701-20145702	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367810877	chr2:20145702-20145703	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529313875	chr2:20145755-20145756	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549077153	chr2:20145756-20145757	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566096028	chr2:20145757-20145758	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371556639	chr2:20145776-20145777	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146372710	chr2:20145816-20145817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147893618	chr2:20145834-20145835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571933745	chr2:20145853-20145854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537760411	chr2:20145858-20145859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556961120	chr2:20145868-20145869	Weak transcription Strong transcription	n/a	n/a	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
low-grade B-cell lymphoma tumor	18367492	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:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20102800-20173200	Weak transcription	Fetal Brain Male	brain
2	chr2:20117600-20188400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:20127400-20167800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:20128400-20188400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:20128400-20189200	Weak transcription	Small Intestine	intestine
6	chr2:20129400-20184800	Weak transcription	Esophagus	oesophagus
7	chr2:20129600-20149800	Weak transcription	Spleen	Spleen
8	chr2:20129600-20189000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:20130200-20189000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:20130400-20149400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:20130400-20149400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:20130400-20164600	Weak transcription	Lung	lung
13	chr2:20130400-20188800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:20130600-20161200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:20130600-20188800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:20131800-20189000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:20133600-20164800	Weak transcription	Gastric	stomach
18	chr2:20133600-20184800	Weak transcription	Psoas Muscle	Psoas
19	chr2:20133800-20151600	Weak transcription	Fetal Kidney	kidney
20	chr2:20133800-20173200	Weak transcription	NHEK	skin
21	chr2:20133800-20176800	Weak transcription	HMEC	breast
22	chr2:20134200-20168600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:20134400-20146800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:20134600-20148400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:20136400-20148800	Weak transcription	HSMM	muscle
26	chr2:20136400-20150800	Weak transcription	Thymus	Thymus
27	chr2:20136400-20177000	Weak transcription	GM12878-XiMat	blood
28	chr2:20136400-20177200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:20136600-20149400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:20136600-20151600	Weak transcription	Brain Germinal Matrix	brain
31	chr2:20136600-20171200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:20136600-20177200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:20136800-20171400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:20136800-20188800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:20136800-20189000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:20137200-20149200	Weak transcription	HUVEC	blood vessel
37	chr2:20137600-20145000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:20137600-20147400	Weak transcription	NHLF	lung
39	chr2:20137600-20150000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:20137600-20161000	Weak transcription	HSMMtube	muscle
41	chr2:20137600-20165200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:20137800-20146800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:20137800-20152000	Weak transcription	Brain Anterior Caudate	brain
44	chr2:20137800-20161200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:20137800-20165000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:20138000-20145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:20138000-20146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:20138000-20149000	Weak transcription	Adipose Nuclei	Adipose
49	chr2:20138000-20165000	Weak transcription	Fetal Brain Female	brain
50	chr2:20138000-20177000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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