Variant report

Variant	nsv528844
Chromosome Location	chr2:21587225-21605003
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	CEBPB	chr2:21591386-21591716	IMR90	lung:	n/a	chr2:21591537-21591548
2	CEBPB	chr2:21590303-21590610	IMR90	lung:	n/a	n/a
3	CEBPB	chr2:21591409-21591713	HepG2	liver:	n/a	chr2:21591537-21591548
4	CEBPZ	chr2:21591481-21591510	HepG2	liver:	n/a	n/a
5	CTCF	chr2:21595660-21595810	GM12864	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
6	CTCF	chr2:21595692-21595827	Medullo	brain:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
7	CTCF	chr2:21595657-21595795	Lung_OC	lung:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
8	CTCF	chr2:21595560-21595710	A549	lung:	n/a	n/a
9	CTCF	chr2:21595680-21595830	GM12864	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
10	CTCF	chr2:21595660-21595810	HCT-116	colon:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
11	CTCF	chr2:21595600-21595750	RPTEC	kidney:	n/a	chr2:21595728-21595746 chr2:21595731-21595744
12	CTCF	chr2:21595538-21595904	IMR90	lung:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
13	CTCF	chr2:21595661-21595798	GM19239	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
14	CTCF	chr2:21595620-21595770	HCFaa	heart:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
15	CTCF	chr2:21595660-21595810	BJ	skin:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
16	CTCF	chr2:21595672-21595806	GM19238	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
17	CTCF	chr2:21595640-21595790	HepG2	liver:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
18	CTCF	chr2:21595675-21595811	GM19240	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
19	CTCF	chr2:21595740-21595890	WI-38	lung:	n/a	n/a
20	CTCF	chr2:21595713-21595790	HUVEC	blood vessel:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
21	CTCF	chr2:21595700-21595850	GM12866	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
22	CTCF	chr2:21595660-21595810	K562	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
23	CTCF	chr2:21595600-21595750	WI-38	lung:	n/a	chr2:21595728-21595746 chr2:21595731-21595744
24	CTCF	chr2:21595640-21595790	GM12869	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
25	CTCF	chr2:21595640-21595790	HRPEpiC	eye:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
26	CTCF	chr2:21595680-21595830	HRE	kidney:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
27	CTCF	chr2:21595582-21595921	K562	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
28	CTCF	chr2:21590460-21590610	HMEC	breast:	n/a	n/a
29	CTCF	chr2:21595660-21595810	HCPEpiC	choroid plexus:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
30	CTCF	chr2:21595680-21595830	HVMF	connective:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
31	CTCF	chr2:21595620-21595770	HL-60	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
32	CTCF	chr2:21595478-21595833	HepG2	liver:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
33	CTCF	chr2:21595680-21595830	HRPEpiC	eye:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
34	CTCF	chr2:21595053-21595151	LNCaP	prostate:	n/a	n/a
35	CTCF	chr2:21595652-21595805	Kidney_OC	kidney:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
36	CTCF	chr2:21595680-21595830	SAEC	small airway:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
37	CTCF	chr2:21595640-21595790	NB4	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
38	CTCF	chr2:21590400-21590550	HMEC	breast:	n/a	n/a
39	CTCF	chr2:21595640-21595790	HCT-116	colon:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
40	CTCF	chr2:21595711-21595788	MCF-7	breast:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
41	CTCF	chr2:21595679-21595802	GM12892	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
42	CTCF	chr2:21595620-21595858	MCF-7	breast:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
43	CTCF	chr2:21603205-21603288	GM20000	blood:	n/a	n/a
44	CTCF	chr2:21595649-21595825	ProgFib	skin:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
45	CTCF	chr2:21595660-21595810	AG04450	lung:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
46	CTCF	chr2:21595720-21595870	AG04450	lung:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
47	CTCF	chr2:21595660-21595810	GM12871	blood:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
48	CTCF	chr2:21595707-21595769	Fibrobl	skin:	n/a	chr2:21595728-21595746 chr2:21595731-21595744 chr2:21595730-21595751
49	CTCF	chr2:21595740-21595890	GM12872	blood:	n/a	n/a
50	CTCF	chr2:21595560-21595710	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:21595342..21596346-chr2:21617977..21618695,3	MCF-7	breast:
2	chr2:21587712..21590244-chr2:21592919..21594979,2	K562	blood:
3	chr2:21587712..21590244-chr2:21592919..21594979,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC010872.2.1-6	chr2:21603884-21603925	NONHSAT069477

Variant related genes	Relation type
ENSG00000270654	TF binding region

Extended variants
information (count: 712 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:712 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13410732	chr2:21587225-21587226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574011942	chr2:21587285-21587286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565520471	chr2:21587321-21587322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542950066	chr2:21587380-21587381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559301730	chr2:21587381-21587382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76252734	chr2:21587429-21587430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545475630	chr2:21587500-21587501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139174540	chr2:21587511-21587512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191133128	chr2:21587517-21587518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182981455	chr2:21587530-21587531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116609821	chr2:21587537-21587538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529998517	chr2:21587555-21587556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114266807	chr2:21587565-21587566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116394101	chr2:21587592-21587593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538294389	chr2:21587601-21587602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552205183	chr2:21587623-21587624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568884065	chr2:21587638-21587639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570687262	chr2:21587658-21587659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557119659	chr2:21587665-21587666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78333956	chr2:21587712-21587713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536545650	chr2:21587716-21587717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539677170	chr2:21587726-21587727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144420296	chr2:21587817-21587818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573150291	chr2:21587824-21587825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545076764	chr2:21587942-21587943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368362195	chr2:21587945-21587946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565350502	chr2:21587972-21587973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150657106	chr2:21588152-21588153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115100149	chr2:21588222-21588223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35551444	chr2:21588227-21588228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569984808	chr2:21588229-21588230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115482088	chr2:21588314-21588315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116123745	chr2:21588315-21588316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188423551	chr2:21588356-21588357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192821854	chr2:21588415-21588416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs118079484	chr2:21588512-21588513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537525695	chr2:21588519-21588520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547928502	chr2:21588531-21588532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182895296	chr2:21588535-21588536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535096164	chr2:21588571-21588572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532489036	chr2:21588584-21588585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553203023	chr2:21588657-21588658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375208807	chr2:21588674-21588675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573479703	chr2:21588692-21588693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558004917	chr2:21588733-21588734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538989379	chr2:21588820-21588821	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs115884854	chr2:21588826-21588827	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs578155950	chr2:21588851-21588852	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs575620011	chr2:21588862-21588863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs219514	chr2:21588940-21588941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21582000-21634600	Weak transcription	Aorta	Aorta
2	chr2:21585400-21589800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:21585400-21589800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:21585400-21590600	Weak transcription	Fetal Lung	lung
5	chr2:21585800-21589800	Weak transcription	HMEC	breast
6	chr2:21585800-21589800	Weak transcription	NHEK	skin
7	chr2:21586800-21587400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:21587000-21592400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:21589800-21590400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:21589800-21590600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:21589800-21590600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:21589800-21590800	Enhancers	HMEC	breast
13	chr2:21589800-21590800	Enhancers	NHEK	skin
14	chr2:21590000-21590800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:21590400-21590800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:21590600-21591200	Enhancers	Fetal Lung	lung
17	chr2:21591000-21593200	Enhancers	Brain Germinal Matrix	brain
18	chr2:21591200-21592600	Enhancers	Fetal Muscle Leg	muscle
19	chr2:21592000-21592600	Enhancers	Fetal Stomach	stomach
20	chr2:21592400-21593000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:21596200-21596400	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:21596200-21596400	Enhancers	Brain Hippocampus Middle	brain
23	chr2:21596600-21598400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:21596600-21598400	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:21597400-21611200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:21598400-21598600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:21598400-21599000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:21598400-21600400	Enhancers	Brain Substantia Nigra	brain
29	chr2:21598400-21600800	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:21598400-21600800	Enhancers	Brain Hippocampus Middle	brain
31	chr2:21598600-21599400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:21598800-21600600	Enhancers	Brain Angular Gyrus	brain
33	chr2:21599000-21600400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:21599400-21600400	Enhancers	Brain Germinal Matrix	brain
35	chr2:21599400-21600800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:21599400-21600800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:21599600-21600400	Enhancers	Fetal Muscle Leg	muscle
38	chr2:21600400-21601200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:21600400-21603200	Weak transcription	Brain Germinal Matrix	brain
40	chr2:21600400-21604200	Weak transcription	Brain Substantia Nigra	brain
41	chr2:21600400-21605000	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:21600800-21603800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:21600800-21604200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:21600800-21604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:21600800-21604800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:21603200-21603400	Enhancers	Brain Germinal Matrix	brain
47	chr2:21603400-21603800	Weak transcription	Brain Germinal Matrix	brain
48	chr2:21603800-21606800	Enhancers	Brain Hippocampus Middle	brain
49	chr2:21603800-21607000	Enhancers	Brain Germinal Matrix	brain
50	chr2:21603800-21607400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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