Variant report

Variant	nsv913340
Chromosome Location	chr21:14382505-14452247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:202)
CpG islands
(count:549)
Chromatin interactive
region (count:0)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:202 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:14424219-14424623	GM12878	blood:	n/a	chr21:14424451-14424462
2	BATF	chr21:14432376-14432735	GM12878	blood:	n/a	n/a
3	BATF	chr21:14432320-14432818	GM12878	blood:	n/a	n/a
4	BATF	chr21:14424282-14424603	GM12878	blood:	n/a	chr21:14424451-14424462
5	BATF	chr21:14392825-14393097	GM12878	blood:	n/a	n/a
6	BATF	chr21:14420136-14420362	GM12878	blood:	n/a	n/a
7	BATF	chr21:14431955-14432235	GM12878	blood:	n/a	n/a
8	BATF	chr21:14431924-14432312	GM12878	blood:	n/a	n/a
9	BCL11A	chr21:14424282-14424503	GM12878	blood:	n/a	n/a
10	BCL11A	chr21:14424328-14424592	GM12878	blood:	n/a	n/a
11	BCL11A	chr21:14431887-14432820	GM12878	blood:	n/a	n/a
12	BCL11A	chr21:14431949-14432253	GM12878	blood:	n/a	n/a
13	BCL11A	chr21:14441151-14441415	GM12878	blood:	n/a	n/a
14	BCL11A	chr21:14432430-14432720	GM12878	blood:	n/a	n/a
15	CEBPB	chr21:14440696-14440835	K562	blood:	n/a	n/a
16	CEBPB	chr21:14389092-14389279	A549	lung:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
17	CEBPB	chr21:14389110-14389307	K562	blood:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
18	CEBPB	chr21:14392873-14393073	IMR90	lung:	n/a	n/a
19	CEBPB	chr21:14440619-14440905	IMR90	lung:	n/a	n/a
20	CEBPB	chr21:14389098-14389315	HepG2	liver:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
21	CEBPB	chr21:14389097-14389318	IMR90	lung:	n/a	chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179 chr21:14389170-14389179
22	CTCF	chr21:14437124-14437172	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr21:14425220-14425370	RPTEC	kidney:	n/a	n/a
24	CTCF	chr21:14391586-14391682	GM13976	blood:	n/a	n/a
25	CTCF	chr21:14425314-14425556	GM12878	blood:	n/a	n/a
26	CTCF	chr21:14406043-14406131	GM10248	blood:	n/a	n/a
27	CTCF	chr21:14412121-14412172	Medullo	brain:	n/a	n/a
28	CTCF	chr21:14425263-14425479	LNCaP	prostate:	n/a	n/a
29	CTCF	chr21:14452041-14452080	GM13976	blood:	n/a	n/a
30	CTCF	chr21:14425271-14425459	T-47D	breast:	n/a	n/a
31	CTCF	chr21:14425324-14425440	Medullo	brain:	n/a	n/a
32	CTCF	chr21:14425340-14425490	NHEK	skin:	n/a	n/a
33	CTCF	chr21:14425202-14425544	T-47D	breast:	n/a	n/a
34	CTCF	chr21:14425297-14425466	LNCaP	prostate:	n/a	n/a
35	CTCF	chr21:14426248-14426339	Lung_OC	lung:	n/a	n/a
36	CTCF	chr21:14425260-14425410	MCF-7	breast:	n/a	n/a
37	CTCF	chr21:14425328-14425438	Fibrobl	skin:	n/a	n/a
38	CTCF	chr21:14383700-14383850	GM12878	blood:	n/a	n/a
39	CTCF	chr21:14425267-14425483	MCF-7	breast:	n/a	n/a
40	CTCF	chr21:14425297-14425513	A549	lung:	n/a	n/a
41	CTCF	chr21:14400159-14400287	Lung_OC	lung:	n/a	n/a
42	CTCF	chr21:14425271-14425472	Gliobla	brain:	n/a	n/a
43	CTCF	chr21:14425259-14425501	MCF-7	breast:	n/a	n/a
44	CTCF	chr21:14425220-14425370	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr21:14425400-14425550	RPTEC	kidney:	n/a	n/a
46	CTCF	chr21:14425280-14425464	MCF-7	breast:	n/a	n/a
47	CTCF	chr21:14402912-14402920	Medullo	brain:	n/a	n/a
48	CTCF	chr21:14425053-14425156	GM10266	blood:	n/a	n/a
49	CTCF	chr21:14425315-14425423	MCF-7	breast:	n/a	n/a
50	CTCF	chr21:14392055-14392098	Spleen_OC	spleen:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:14409311-14409361	HCF	heart:	n/a
2	chr21:14407237-14407287	NHBE	bronchial:	n/a
3	chr21:14410566-14410616	HCPEpiC	choroid plexus:	n/a
4	chr21:14410030-14410080	AG09309	skin:	n/a
5	chr21:14410329-14410379	NH-A	brain:	n/a
6	chr21:14409524-14409574	NT2-D1	testis:	n/a
7	chr21:14410500-14410550	GM06990	blood:	n/a
8	chr21:14410329-14410379	NT2-D1	testis:	n/a
9	chr21:14409524-14409574	HCPEpiC	choroid plexus:	n/a
10	chr21:14409524-14409574	A549	lung:	n/a
11	chr21:14409311-14409361	AoSMC	blood vessel:	n/a
12	chr21:14410329-14410379	ECC-1	luminal epithelium:	n/a
13	chr21:14409311-14409361	GM12878	blood:	n/a
14	chr21:14414818-14414868	HEEpiC	esophagus:	n/a
15	chr21:14410030-14410080	IMR90	lung:	fetal
16	chr21:14409524-14409574	GM12891	blood:	n/a
17	chr21:14410329-14410379	A549	lung:	n/a
18	chr21:14410566-14410616	Hela-S3	cervix:	n/a
19	chr21:14410422-14410472	GM06990	blood:	n/a
20	chr21:14410329-14410379	ovcar-3	ovarian:	n/a
21	chr21:14414818-14414868	HMEC	breast:	n/a
22	chr21:14410329-14410379	HRE	kidney:	n/a
23	chr21:14407237-14407287	HRE	kidney:	n/a
24	chr21:14410030-14410080	PANC-1	pancreas:	n/a
25	chr21:14409311-14409361	K562	blood:	n/a
26	chr21:14410422-14410472	SKMC	muscle:	n/a
27	chr21:14410566-14410616	IMR90	lung:	fetal
28	chr21:14409524-14409574	GM19239	blood:	n/a
29	chr21:14409524-14409574	GM12892	blood:	n/a
30	chr21:14407237-14407287	A549	lung:	n/a
31	chr21:14410566-14410616	HMEC	breast:	n/a
32	chr21:14410566-14410616	NB4	blood:	n/a
33	chr21:14410329-14410379	HEK293	kidney:	embryo
34	chr21:14407237-14407287	HepG2	liver:	n/a
35	chr21:14410329-14410379	SK-N-SH	brain:	n/a
36	chr21:14410422-14410472	HRE	kidney:	n/a
37	chr21:14410422-14410472	NHBE	bronchial:	n/a
38	chr21:14407237-14407287	HPAEpiC	pulmonary alveolar:	n/a
39	chr21:14409524-14409574	HepG2	liver:	n/a
40	chr21:14410329-14410379	K562	blood:	n/a
41	chr21:14409524-14409574	NHDF-neo	bronchial:	n/a
42	chr21:14410566-14410616	Hepatocyte	liver:	n/a
43	chr21:14414818-14414868	MCF-7	breast:	n/a
44	chr21:14414818-14414868	SK-N-SH	brain:	n/a
45	chr21:14407237-14407287	GM12891	blood:	n/a
46	chr21:14407237-14407287	HUVEC	blood vessel:	n/a
47	chr21:14409524-14409574	AG04450	lung:	fetal
48	chr21:14407237-14407287	ECC-1	luminal epithelium:	n/a
49	chr21:14409524-14409574	NH-A	brain:	n/a
50	chr21:14410329-14410379	HL-60	blood:	n/a

No data

(count:21 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 664 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532791910	chr21:14388951-14388952	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs10432899	chr21:14388952-14388953	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs3875617	chr21:14388992-14388993	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs200655344	chr21:14388996-14388997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs377094656	chr21:14388997-14388998	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546657791	chr21:14389000-14389001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs370183687	chr21:14389013-14389014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs552132116	chr21:14389097-14389098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs3875618	chr21:14389124-14389125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571655529	chr21:14389153-14389154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs533904634	chr21:14389170-14389171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs189412978	chr21:14389181-14389182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554157826	chr21:14389193-14389194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs3875619	chr21:14389198-14389199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs574000726	chr21:14389210-14389211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs10432797	chr21:14389236-14389237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536757936	chr21:14389238-14389239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555132943	chr21:14389239-14389240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112379198	chr21:14389269-14389270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs57130354	chr21:14389270-14389271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs544100592	chr21:14389304-14389305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs575143139	chr21:14389305-14389306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181051522	chr21:14389312-14389313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs184201386	chr21:14389315-14389316	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544078145	chr21:14389318-14389319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201876863	chr21:14391105-14391106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs543753235	chr21:14391158-14391159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs9305857	chr21:14391168-14391169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs461839	chr21:14391199-14391200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563321787	chr21:14391216-14391217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532407259	chr21:14391243-14391244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs200811264	chr21:14391253-14391254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs552306164	chr21:14391265-14391266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs559773291	chr21:14391302-14391303	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs528582917	chr21:14391307-14391308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs4569552	chr21:14391328-14391329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs3907848	chr21:14391599-14391600	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs62220280	chr21:14391605-14391606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs111387509	chr21:14391608-14391609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs3119433	chr21:14391631-14391632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538602266	chr21:14391633-14391634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs62220281	chr21:14391671-14391672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs28773023	chr21:14391874-14391875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs367554776	chr21:14391903-14391904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs572060186	chr21:14391945-14391946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs200563253	chr21:14391976-14391977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs58836479	chr21:14392006-14392007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201376990	chr21:14392007-14392008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs199895195	chr21:14392009-14392010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs4638880	chr21:14392037-14392038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Glioma	20126413	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14409800-14410600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:14409800-14410600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:14436200-14437000	Enhancers	Dnd41	blood

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