Variant report

Variant	nsv964475
Chromosome Location	chr21:14372826-14528310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:379)
CpG islands
(count:550)
Chromatin interactive
region (count:0)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:14527906-14528142	GM12878	blood:	n/a	n/a
2	BATF	chr21:14431924-14432312	GM12878	blood:	n/a	n/a
3	BATF	chr21:14424282-14424603	GM12878	blood:	n/a	chr21:14424451-14424462
4	BATF	chr21:14432376-14432735	GM12878	blood:	n/a	n/a
5	BATF	chr21:14420136-14420362	GM12878	blood:	n/a	n/a
6	BATF	chr21:14392825-14393097	GM12878	blood:	n/a	n/a
7	BATF	chr21:14527860-14528095	GM12878	blood:	n/a	n/a
8	BATF	chr21:14424219-14424623	GM12878	blood:	n/a	chr21:14424451-14424462
9	BATF	chr21:14431955-14432235	GM12878	blood:	n/a	n/a
10	BATF	chr21:14432320-14432818	GM12878	blood:	n/a	n/a
11	BATF	chr21:14480770-14481109	GM12878	blood:	n/a	chr21:14480939-14480950
12	BATF	chr21:14480794-14481018	GM12878	blood:	n/a	chr21:14480939-14480950
13	BCL11A	chr21:14378899-14379097	GM12878	blood:	n/a	n/a
14	BCL11A	chr21:14527852-14528170	GM12878	blood:	n/a	n/a
15	BCL11A	chr21:14527880-14528210	GM12878	blood:	n/a	n/a
16	BCL11A	chr21:14432430-14432720	GM12878	blood:	n/a	n/a
17	BCL11A	chr21:14424328-14424592	GM12878	blood:	n/a	n/a
18	BCL11A	chr21:14511452-14511619	GM12878	blood:	n/a	n/a
19	BCL11A	chr21:14441151-14441415	GM12878	blood:	n/a	n/a
20	BCL11A	chr21:14424282-14424503	GM12878	blood:	n/a	n/a
21	BCL11A	chr21:14431887-14432820	GM12878	blood:	n/a	n/a
22	BCL11A	chr21:14431949-14432253	GM12878	blood:	n/a	n/a
23	CEBPB	chr21:14389110-14389307	K562	blood:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
24	CEBPB	chr21:14389098-14389315	HepG2	liver:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
25	CEBPB	chr21:14389097-14389318	IMR90	lung:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
26	CEBPB	chr21:14478744-14478794	HepG2	liver:	n/a	chr21:14478768-14478779
27	CEBPB	chr21:14440619-14440905	IMR90	lung:	n/a	n/a
28	CEBPB	chr21:14389092-14389279	A549	lung:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
29	CEBPB	chr21:14440696-14440835	K562	blood:	n/a	n/a
30	CEBPB	chr21:14392873-14393073	IMR90	lung:	n/a	n/a
31	CTCF	chr21:14475128-14475188	Lung_OC	lung:	n/a	n/a
32	CTCF	chr21:14402921-14403127	Medullo	brain:	n/a	n/a
33	CTCF	chr21:14478402-14478500	GM10248	blood:	n/a	n/a
34	CTCF	chr21:14425271-14425472	Gliobla	brain:	n/a	n/a
35	CTCF	chr21:14481212-14481276	GM10248	blood:	n/a	n/a
36	CTCF	chr21:14460606-14460694	GM13976	blood:	n/a	n/a
37	CTCF	chr21:14425280-14425464	MCF-7	breast:	n/a	n/a
38	CTCF	chr21:14425294-14425456	MCF-7	breast:	n/a	n/a
39	CTCF	chr21:14471670-14471707	GM13977	blood:	n/a	n/a
40	CTCF	chr21:14425325-14425444	HepG2	liver:	n/a	n/a
41	CTCF	chr21:14425324-14425440	Medullo	brain:	n/a	n/a
42	CTCF	chr21:14491810-14491882	LNCaP	prostate:	n/a	n/a
43	CTCF	chr21:14425358-14425403	K562	blood:	n/a	n/a
44	CTCF	chr21:14425260-14425410	MCF-7	breast:	n/a	n/a
45	CTCF	chr21:14425271-14425459	T-47D	breast:	n/a	n/a
46	CTCF	chr21:14425300-14425450	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr21:14425320-14425471	A549	lung:	n/a	n/a
48	CTCF	chr21:14402912-14402920	Medullo	brain:	n/a	n/a
49	CTCF	chr21:14485344-14485367	GM10248	blood:	n/a	n/a
50	CTCF	chr21:14425280-14425430	WERI-Rb-1	eye:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:14410422-14410472	AG04450	lung:	fetal
2	chr21:14410422-14410472	AG04450	lung:	fetal
3	chr21:14410030-14410080	Hela-S3	cervix:	n/a
4	chr21:14409311-14409361	Jurkat	blood:	n/a
5	chr21:14410422-14410472	AoSMC	blood vessel:	n/a
6	chr21:14410030-14410080	HNPCEpiC	eye:	n/a
7	chr21:14410329-14410379	GM12878	blood:	n/a
8	chr21:14410422-14410472	SK-N-SH_RA	brain:	n/a
9	chr21:14410329-14410379	NHDF-neo	bronchial:	n/a
10	chr21:14410422-14410472	HRPEpiC	eye:	n/a
11	chr21:14410030-14410080	HRE	kidney:	n/a
12	chr21:14414818-14414868	HRPEpiC	eye:	n/a
13	chr21:14410030-14410080	U87	brain:	n/a
14	chr21:14409524-14409574	T-47D	breast:	n/a
15	chr21:14409311-14409361	CMK	blood:	n/a
16	chr21:14410030-14410080	HRPEpiC	eye:	n/a
17	chr21:14414818-14414868	A549	lung:	n/a
18	chr21:14410566-14410616	AG10803	skin:	n/a
19	chr21:14409311-14409361	ECC-1	luminal epithelium:	n/a
20	chr21:14409524-14409574	MCF-7	breast:	n/a
21	chr21:14407237-14407287	H1-hESC	embryonic stem cell:	embryo
22	chr21:14410500-14410550	HNPCEpiC	eye:	n/a
23	chr21:14410422-14410472	Caco-2	colon:	n/a
24	chr21:14410030-14410080	GM12892	blood:	n/a
25	chr21:14410566-14410616	HepG2	liver:	n/a
26	chr21:14410422-14410472	NH-A	brain:	n/a
27	chr21:14410422-14410472	GM12891	blood:	n/a
28	chr21:14409524-14409574	GM12878	blood:	n/a
29	chr21:14410329-14410379	GM06990	blood:	n/a
30	chr21:14409311-14409361	U87	brain:	n/a
31	chr21:14410500-14410550	HMEC	breast:	n/a
32	chr21:14410500-14410550	RPTEC	kidney:	n/a
33	chr21:14410566-14410616	HL-60	blood:	n/a
34	chr21:14414818-14414868	AG04449	skin:	fetal
35	chr21:14410329-14410379	SAEC	small airway:	n/a
36	chr21:14410500-14410550	ProgFib	skin:	n/a
37	chr21:14410030-14410080	MCF10A-Er-Src	breast:	n/a
38	chr21:14410500-14410550	AG09319	gingival:	n/a
39	chr21:14414818-14414868	NT2-D1	testis:	n/a
40	chr21:14410566-14410616	PrEC	prostate:	n/a
41	chr21:14414818-14414868	HRE	kidney:	n/a
42	chr21:14407237-14407287	HEEpiC	esophagus:	n/a
43	chr21:14409524-14409574	IMR90	lung:	fetal
44	chr21:14410329-14410379	ECC-1	luminal epithelium:	n/a
45	chr21:14410422-14410472	Jurkat	blood:	n/a
46	chr21:14410422-14410472	HIPEpiC	eye:	n/a
47	chr21:14410566-14410616	K562	blood:	n/a
48	chr21:14410329-14410379	HMEC	breast:	n/a
49	chr21:14410329-14410379	PFSK-1	brain:	n/a
50	chr21:14410566-14410616	HNPCEpiC	eye:	n/a

No data

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-4	chr21:14439853-14440186	NONHSAT081096
2	lnc-POTED-4	chr21:14435262-14435333	NONHSAT081096
3	lnc-POTED-4	chr21:14439173-14439296	XLOC_013857
4	lnc-POTED-4	chr21:14490159-14490571	NR_026916
5	lnc-POTED-4	chr21:14437496-14438020	NR_026916
6	lnc-POTED-4	chr21:14410651-14410745	NONHSAT081094
7	lnc-POTED-4	chr21:14424117-14425023	NR_026916
8	lnc-POTED-4	chr21:14432787-14433204	NR_026916
9	lnc-POTED-4	chr21:14424117-14424728	NONHSAT147182
10	lnc-POTED-4	chr21:14421289-14421350	NONHSAT147182
11	lnc-POTED-4	chr21:14437894-14438020	XLOC_013857
12	lnc-POTED-4	chr21:14410487-14410745	NR_026916
13	lnc-POTED-4	chr21:14421286-14421350	NR_026916
14	lnc-POTED-4	chr21:14417484-14417591	NR_026916
15	lnc-POTED-4	chr21:14414823-14414937	NR_026916
16	lnc-POTED-13	chr21:14492565-14493128	NONHSAT081097
17	lnc-POTED-4	chr21:14435161-14435279	NR_026916
18	lnc-POTED-4	chr21:14415100-14415273	NR_026916
19	lnc-POTED-4	chr21:14439173-14439369	NR_026916
20	lnc-BAGE4-1	chr21:14388942-14389013	XLOC_013999
21	lnc-POTED-4	chr21:14417484-14418742	NONHSAT081094
22	lnc-POTED-4	chr21:14441496-14441613	NR_026916
23	lnc-POTED-4	chr21:14435367-14437487	NONHSAT081096

No data

Variant related genes	Relation type
RNU6-614P	TF binding region
ZNF355P	TF binding region
ANKRD30BP2	TF binding region
ENSG00000237202	TF binding region
ENSG00000229306	TF binding region
RNU6-614P	CpG island
ZNF355P	CpG island
ANKRD30BP2	CpG island
ENSG00000237202	CpG island
ENSG00000229306	CpG island

Extended variants
information (count: 767 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568263854	chr21:14379009-14379010	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200036647	chr21:14379027-14379028	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs536907487	chr21:14379048-14379049	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557262277	chr21:14379065-14379066	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570347707	chr21:14379099-14379100	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539444947	chr21:14379114-14379115	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552632657	chr21:14379120-14379121	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572566381	chr21:14379135-14379136	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs467941	chr21:14379152-14379153	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535192914	chr21:14379155-14379156	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555502152	chr21:14379179-14379180	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs467943	chr21:14379187-14379188	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575476358	chr21:14379205-14379206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112794911	chr21:14379243-14379244	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544578091	chr21:14379248-14379249	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564830896	chr21:14379257-14379258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs577944063	chr21:14379276-14379277	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540588232	chr21:14379302-14379303	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374976713	chr21:14379304-14379305	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560496000	chr21:14379306-14379307	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs529360575	chr21:14379312-14379313	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs549507064	chr21:14379354-14379355	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370366025	chr21:14379367-14379368	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs202205886	chr21:14379371-14379372	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200574085	chr21:14379376-14379377	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78551538	chr21:14379392-14379393	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530779152	chr21:14379416-14379417	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62221799	chr21:14379449-14379450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4082777	chr21:14379496-14379497	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550578035	chr21:14379501-14379502	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs570755844	chr21:14379506-14379507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376062895	chr21:14379514-14379515	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs539365951	chr21:14379541-14379542	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532791910	chr21:14388951-14388952	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs10432899	chr21:14388952-14388953	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs3875617	chr21:14388992-14388993	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs200655344	chr21:14388996-14388997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs377094656	chr21:14388997-14388998	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs546657791	chr21:14389000-14389001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs370183687	chr21:14389013-14389014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs552132116	chr21:14389097-14389098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs3875618	chr21:14389124-14389125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs571655529	chr21:14389153-14389154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs533904634	chr21:14389170-14389171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189412978	chr21:14389181-14389182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs554157826	chr21:14389193-14389194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs3875619	chr21:14389198-14389199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs574000726	chr21:14389210-14389211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs10432797	chr21:14389236-14389237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs536757936	chr21:14389238-14389239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	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
Myelofibrosis	22110671	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Pancreatic cancer	17952125	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14379000-14379600	Active TSS	Spleen	Spleen
2	chr21:14409800-14410600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:14409800-14410600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:14436200-14437000	Enhancers	Dnd41	blood
5	chr21:14497200-14497400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links