Variant report

Variant	nsv979509
Chromosome Location	chr21:37973119-37976589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37966496..37969164-chr21:37974994..37977509,2	K562	blood:
2	chr21:37972910..37975712-chr21:37978328..37980849,2	MCF-7	breast:
3	chr21:37975190..37976872-chr21:37977276..37978822,2	K562	blood:
4	chr21:37970149..37972535-chr21:37972835..37974907,2	K562	blood:
5	chr21:37797860..37800286-chr21:37973474..37976401,2	MCF-7	breast:
6	chr21:37973420..37975043-chr21:37996316..37998941,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77968256	chr21:37973199-37973200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571302713	chr21:37973218-37973219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74502036	chr21:37973228-37973229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112402639	chr21:37973255-37973256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182560276	chr21:37973304-37973305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536781578	chr21:37973315-37973316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145253977	chr21:37973341-37973342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576619120	chr21:37973358-37973359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545715830	chr21:37973383-37973384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565533992	chr21:37973406-37973407	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572783166	chr21:37973447-37973448	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572091386	chr21:37973494-37973495	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80089465	chr21:37973501-37973502	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187688543	chr21:37973515-37973516	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549094705	chr21:37973517-37973518	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562532371	chr21:37973518-37973519	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531580635	chr21:37973532-37973533	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551164000	chr21:37973554-37973555	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192728066	chr21:37973589-37973590	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183882739	chr21:37973642-37973643	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs547366717	chr21:37973750-37973751	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs567686397	chr21:37973770-37973771	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs2835400	chr21:37973783-37973784	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556666561	chr21:37973814-37973815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7276044	chr21:37973982-37973983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187478212	chr21:37974036-37974037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559208584	chr21:37974046-37974047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572746031	chr21:37974064-37974065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201130642	chr21:37974071-37974072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377038731	chr21:37974072-37974073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5843770	chr21:37974073-37974074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368737081	chr21:37974082-37974083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10606605	chr21:37974083-37974084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs398036412	chr21:37974084-37974085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541772338	chr21:37974089-37974090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143695341	chr21:37974195-37974196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531453721	chr21:37974196-37974197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370249517	chr21:37974203-37974204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76525666	chr21:37974270-37974271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562555942	chr21:37974352-37974353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545828651	chr21:37974359-37974360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192028784	chr21:37974365-37974366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551133381	chr21:37974421-37974422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146734845	chr21:37974504-37974505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527566646	chr21:37974510-37974511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547330124	chr21:37974565-37974566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559087725	chr21:37974580-37974581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549867654	chr21:37974607-37974608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528053041	chr21:37974608-37974609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373435828	chr21:37974609-37974610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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 myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	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
Acute myeloid leukemia	17237825	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Down syndrome	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37970600-37974800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr21:37972200-37973400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr21:37973000-37973600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:37973400-37973600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr21:37973400-37973800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:37973400-37974200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr21:37973400-37975200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr21:37973600-37976400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr21:37973600-37978800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:37974200-37974600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr21:37974200-37975200	Enhancers	Primary T cells from cord blood	blood
12	chr21:37974200-37975200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr21:37974200-37976000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr21:37974600-37977200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr21:37974800-37976600	Enhancers	Fetal Thymus	thymus
16	chr21:37974800-37976800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr21:37975000-37975800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr21:37975000-37976400	Enhancers	Thymus	Thymus
19	chr21:37975200-37975400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr21:37975200-37975400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr21:37975200-37975600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr21:37975400-37975600	Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr21:37975400-37975800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr21:37975600-37976400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr21:37975600-37976800	Enhancers	Primary T cells from cord blood	blood
26	chr21:37975600-37981800	Weak transcription	Right Atrium	heart
27	chr21:37975800-37976000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr21:37976000-37976400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr21:37976000-37977000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr21:37976400-37976800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr21:37976400-37977200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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