Variant report

Variant	nsv524022
Chromosome Location	chr21:16865946-16874741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr21:16872280-16872474	HepG2	liver:	n/a	n/a
2	CTCF	chr21:16868600-16868750	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr21:16868500-16868650	BE2_C	brain:	n/a	n/a
4	CTCF	chr21:16868480-16868630	HMEC	breast:	n/a	n/a
5	CTCF	chr21:16868520-16868670	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr21:16868500-16868650	A549	lung:	n/a	n/a
7	CTCF	chr21:16868480-16868630	NHEK	skin:	n/a	n/a
8	CTCF	chr21:16868585-16868627	K562	blood:	n/a	n/a
9	CTCF	chr21:16868520-16868670	HMF	breast:	n/a	n/a
10	CTCF	chr21:16868620-16868770	HMF	breast:	n/a	n/a
11	CTCF	chr21:16868580-16868730	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr21:16868580-16868730	HMEC	breast:	n/a	n/a
13	CTCF	chr21:16868560-16868710	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr21:16868560-16868710	MCF-7	breast:	n/a	n/a
15	CTCF	chr21:16868640-16868790	NHEK	skin:	n/a	n/a
16	CTCF	chr21:16868548-16868714	NHEK	skin:	n/a	n/a
17	CTCF	chr21:16868511-16868789	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr21:16868560-16868710	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr21:16868560-16868710	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr21:16868620-16868770	HCFaa	heart:	n/a	n/a
21	CTCF	chr21:16868201-16868285	GM10248	blood:	n/a	n/a
22	CTCF	chr21:16868540-16868690	BE2_C	brain:	n/a	n/a
23	CTCF	chr21:16868580-16868730	HEK293	kidney:	n/a	n/a
24	CTCF	chr21:16868660-16868810	RPTEC	kidney:	n/a	n/a
25	CTCF	chr21:16868643-16868730	K562	blood:	n/a	n/a
26	CTCF	chr21:16868618-16868705	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr21:16868546-16868754	HepG2	liver:	n/a	n/a
28	CTCF	chr21:16868672-16868707	MCF-7	breast:	n/a	n/a
29	E2F4	chr21:16868404-16868552	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr21:16869133-16869318	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr21:16870807-16871124	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr21:16868326-16868923	MCF10A-Er-Src	breast:	n/a	chr21:16868522-16868533
33	FOS	chr21:16868345-16868687	MCF10A-Er-Src	breast:	n/a	chr21:16868522-16868533
34	FOS	chr21:16870782-16871133	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr21:16868310-16868710	MCF10A-Er-Src	breast:	n/a	chr21:16868522-16868533
36	FOS	chr21:16870811-16871129	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr21:16870841-16871133	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr21:16868288-16868719	MCF10A-Er-Src	breast:	n/a	chr21:16868522-16868533
39	FOS	chr21:16868275-16868754	HUVEC	blood vessel:	n/a	chr21:16868522-16868533
40	FOSL2	chr21:16868307-16868728	HepG2	liver:	n/a	n/a
41	FOSL2	chr21:16868275-16868617	HepG2	liver:	n/a	n/a
42	GATA2	chr21:16868799-16869157	SH-SY5Y	brain:	n/a	n/a
43	GATA2	chr21:16868225-16869124	HUVEC	blood vessel:	n/a	n/a
44	GATA3	chr21:16868800-16869617	SH-SY5Y	brain:	n/a	chr21:16869355-16869365 chr21:16869358-16869367 chr21:16869250-16869259 chr21:16869354-16869370 chr21:16869357-16869367 chr21:16869356-16869368
45	JUN	chr21:16868342-16868691	HUVEC	blood vessel:	n/a	n/a
46	JUN	chr21:16868402-16868621	HepG2	liver:	n/a	n/a
47	JUND	chr21:16868338-16868698	HepG2	liver:	n/a	chr21:16868522-16868533
48	JUND	chr21:16868341-16868703	Hela-S3	cervix:	n/a	chr21:16868522-16868533
49	JUND	chr21:16868372-16868660	H1-hESC	embryonic stem cell:	n/a	chr21:16868522-16868533
50	MAFF	chr21:16873653-16873731	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:16864702..16867275-chr21:16868651..16870885,2	MCF-7	breast:
2	chr21:16864702..16867275-chr21:16868651..16870885,2	MCF-7	breast:
3	chr21:16864646..16867573-chr21:16872741..16874702,2	K562	blood:
4	chr21:16864646..16867573-chr21:16872741..16874702,2	K562	blood:
5	chr21:16864227..16867131-chr21:16888537..16890334,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRIP1-3	chr21:16868035-16868443	XLOC_014007
2	lnc-NRIP1-3	chr21:16866251-16867217	XLOC_014007

Variant related genes	Relation type
CYCSP42	TF binding region
ENSG00000224247	TF binding region

Extended variants
information (count: 387 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2823307	chr21:16865946-16865947	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565957699	chr21:16865947-16865948	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs372041939	chr21:16865954-16865955	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577659500	chr21:16865975-16865976	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs540503323	chr21:16865976-16865977	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs35506260	chr21:16866000-16866001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77483635	chr21:16866009-16866010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76571897	chr21:16866026-16866027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9977554	chr21:16866058-16866059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190901138	chr21:16866063-16866064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561128089	chr21:16866074-16866075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557080007	chr21:16866104-16866105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531269359	chr21:16866106-16866107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78502946	chr21:16866111-16866112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180897704	chr21:16866131-16866132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185867138	chr21:16866135-16866136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78035090	chr21:16866149-16866150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79646897	chr21:16866224-16866225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567415546	chr21:16866232-16866233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563530518	chr21:16866253-16866254	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs190050633	chr21:16866254-16866255	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs556043332	chr21:16866320-16866321	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs569869817	chr21:16866359-16866360	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs537942574	chr21:16866382-16866383	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs561696032	chr21:16866387-16866388	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs147842704	chr21:16866397-16866398	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs8128615	chr21:16866410-16866411	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533898010	chr21:16866437-16866438	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs553771578	chr21:16866493-16866494	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs139691873	chr21:16866517-16866518	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs543315984	chr21:16866557-16866558	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs577264852	chr21:16866592-16866593	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs76132378	chr21:16866630-16866631	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs115910638	chr21:16866706-16866707	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs183103685	chr21:16866709-16866710	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs565008714	chr21:16866728-16866729	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs527401044	chr21:16866744-16866745	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs145219343	chr21:16866839-16866840	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs560945316	chr21:16866850-16866851	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs73892623	chr21:16866851-16866852	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539585313	chr21:16866854-16866855	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs569727565	chr21:16866884-16866885	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs115396836	chr21:16866908-16866909	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs151073875	chr21:16866915-16866916	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs571379980	chr21:16866974-16866975	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs534031180	chr21:16866981-16866982	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs201198046	chr21:16867003-16867004	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs567836919	chr21:16867031-16867032	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs574019530	chr21:16867046-16867047	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs185947835	chr21:16867075-16867076	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20409316	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16856000-16868200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:16863600-16866200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:16865600-16866000	Enhancers	Fetal Lung	lung
4	chr21:16865800-16866600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:16866200-16866400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr21:16866200-16866600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:16866200-16866600	Enhancers	Placenta	Placenta
8	chr21:16866400-16867000	Enhancers	Primary hematopoietic stem cells	blood
9	chr21:16866600-16868000	Weak transcription	Placenta	Placenta
10	chr21:16867000-16867200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr21:16867400-16868400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr21:16868000-16868600	Enhancers	Placenta	Placenta
13	chr21:16868000-16869600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr21:16868000-16869800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr21:16868200-16868800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:16868200-16868800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr21:16868200-16868800	Enhancers	HUVEC	blood vessel
18	chr21:16868200-16869000	Enhancers	NHEK	skin
19	chr21:16868400-16868600	Enhancers	Aorta	Aorta
20	chr21:16868400-16868800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:16868400-16868800	Enhancers	HMEC	breast
22	chr21:16868400-16869600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr21:16868800-16869800	Enhancers	Adipose Nuclei	Adipose
24	chr21:16868800-16870400	Weak transcription	HMEC	breast
25	chr21:16868800-16870600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:16869000-16870600	Weak transcription	NHEK	skin
27	chr21:16870200-16870600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:16870400-16871400	Enhancers	HMEC	breast
29	chr21:16870600-16871000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:16870600-16871200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:16870600-16871400	Enhancers	NHEK	skin
32	chr21:16871200-16874800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:16872200-16872600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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