Variant report

Variant	esv3342751
Chromosome Location	chr21:45815361-45815904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45810327..45812082-chr21:45813683..45817814,3	MCF-7	breast:
2	chr21:45815267..45816924-chr21:45817167..45818818,2	MCF-7	breast:
3	chr21:45813102..45816153-chr21:45817803..45820914,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202230618	chr21:45815365-45815366	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140224083	chr21:45815370-45815371	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200559877	chr21:45815372-45815373	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145284374	chr21:45815374-45815375	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139011900	chr21:45815397-45815398	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375351173	chr21:45815402-45815403	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368348703	chr21:45815403-45815404	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554340538	chr21:45815405-45815406	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140653462	chr21:45815406-45815407	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572586312	chr21:45815424-45815425	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150484698	chr21:45815425-45815426	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138252029	chr21:45815430-45815431	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371704678	chr21:45815466-45815467	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373958140	chr21:45815477-45815478	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201540225	chr21:45815482-45815483	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201107877	chr21:45815484-45815485	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377400538	chr21:45815498-45815499	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576929152	chr21:45815506-45815507	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182133723	chr21:45815510-45815511	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562801548	chr21:45815521-45815522	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529687282	chr21:45815522-45815523	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572175800	chr21:45815548-45815549	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190235256	chr21:45815557-45815558	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373893686	chr21:45815572-45815573	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150668005	chr21:45815575-45815576	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371831935	chr21:45815582-45815583	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528212987	chr21:45815583-45815584	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28483980	chr21:45815586-45815587	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112738384	chr21:45815591-45815592	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28729446	chr21:45815606-45815607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200507097	chr21:45815607-45815608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78207036	chr21:45815616-45815617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201974790	chr21:45815619-45815620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376591864	chr21:45815623-45815624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79609453	chr21:45815625-45815626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369110316	chr21:45815627-45815628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371645702	chr21:45815630-45815631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113789946	chr21:45815638-45815639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551812966	chr21:45815674-45815675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376254393	chr21:45815694-45815695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369572639	chr21:45815705-45815706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201323280	chr21:45815734-45815735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569583941	chr21:45815742-45815743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536848443	chr21:45815772-45815773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373764790	chr21:45815779-45815780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376337169	chr21:45815780-45815781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369114173	chr21:45815792-45815793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373035053	chr21:45815797-45815798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555497409	chr21:45815817-45815818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117963804	chr21:45815824-45815825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45805200-45819400	Weak transcription	Primary T cells from cord blood	blood
2	chr21:45807200-45839400	Weak transcription	Gastric	stomach
3	chr21:45807400-45819800	Weak transcription	Brain Angular Gyrus	brain
4	chr21:45809200-45819000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:45810200-45820600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr21:45810800-45823400	Weak transcription	Brain Anterior Caudate	brain
7	chr21:45810800-45825000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:45811200-45817200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr21:45811200-45821600	Weak transcription	Thymus	Thymus
10	chr21:45811400-45817200	Weak transcription	Spleen	Spleen
11	chr21:45811800-45822000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr21:45811800-45825200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr21:45812000-45821600	Weak transcription	Brain Hippocampus Middle	brain
14	chr21:45812200-45815600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr21:45812200-45817400	Weak transcription	Adipose Nuclei	Adipose
16	chr21:45812200-45818800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:45812200-45823400	Weak transcription	Primary B cells from cord blood	blood
18	chr21:45812200-45825600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr21:45812400-45815800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr21:45812600-45815800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr21:45812800-45858200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr21:45813200-45818400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr21:45814000-45833600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr21:45814800-45815600	Enhancers	Fetal Thymus	thymus
25	chr21:45815000-45815600	Enhancers	Stomach Mucosa	stomach
26	chr21:45815200-45815600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:45815400-45815600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr21:45815600-45817000	Weak transcription	Stomach Mucosa	stomach
29	chr21:45815600-45817200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr21:45815600-45819000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:45815800-45816600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr21:45815800-45816600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr21:45815800-45874800	Weak transcription	Right Atrium	heart

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