Variant report

Variant	nsv913356
Chromosome Location	chr21:14585453-14994911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:399)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:17)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:399 , 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	chr21:14607219-14607387	GM12878	blood:	n/a	chr21:14607350-14607360
2	CEBPB	chr21:14927795-14927928	HepG2	liver:	n/a	n/a
3	CEBPB	chr21:14616982-14617279	IMR90	lung:	n/a	chr21:14617135-14617146
4	CEBPB	chr21:14616993-14617191	HepG2	liver:	n/a	chr21:14617135-14617146
5	CEBPB	chr21:14748547-14748799	IMR90	lung:	n/a	chr21:14748653-14748664
6	CEBPB	chr21:14748543-14748761	HepG2	liver:	n/a	chr21:14748653-14748664
7	CEBPB	chr21:14748544-14748767	A549	lung:	n/a	chr21:14748653-14748664
8	CTCF	chr21:14890783-14890868	GM20000	blood:	n/a	n/a
9	CTCF	chr21:14616825-14616900	GM13976	blood:	n/a	n/a
10	CTCF	chr21:14794636-14794665	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr21:14713136-14713254	Pancreas_OC	pancreas:	n/a	chr21:14713204-14713220 chr21:14713198-14713219
12	CTCF	chr21:14619819-14619919	GM20000	blood:	n/a	n/a
13	CTCF	chr21:14742659-14742973	A549	lung:	n/a	n/a
14	CTCF	chr21:14892380-14892530	MCF-7	breast:	n/a	n/a
15	CTCF	chr21:14892451-14892543	HepG2	liver:	n/a	n/a
16	CTCF	chr21:14718801-14718859	Lung_OC	lung:	n/a	n/a
17	CTCF	chr21:14808160-14808310	HEK293	kidney:	n/a	n/a
18	CTCF	chr21:14670631-14670650	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr21:14713166-14713276	MCF-7	breast:	n/a	chr21:14713204-14713220 chr21:14713198-14713219
20	CTCF	chr21:14929477-14929514	Lung_OC	lung:	n/a	n/a
21	CTCF	chr21:14937718-14937755	Lung_OC	lung:	n/a	n/a
22	CTCF	chr21:14713071-14713312	A549	lung:	n/a	chr21:14713204-14713220 chr21:14713198-14713219
23	CTCF	chr21:14620123-14620178	GM20000	blood:	n/a	n/a
24	CTCF	chr21:14912247-14912296	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr21:14792454-14792492	GM10248	blood:	n/a	n/a
26	CTCF	chr21:14760610-14760650	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr21:14980834-14980883	Lung_OC	lung:	n/a	n/a
28	CTCF	chr21:14980700-14980784	GM13976	blood:	n/a	n/a
29	CTCF	chr21:14902183-14902269	LNCaP	prostate:	n/a	n/a
30	CTCF	chr21:14828483-14828581	Lung_OC	lung:	n/a	n/a
31	CTCF	chr21:14797723-14797868	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr21:14902080-14902230	HEK293	kidney:	n/a	n/a
33	CTCF	chr21:14742900-14743050	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr21:14896822-14896844	LNCaP	prostate:	n/a	n/a
35	CTCF	chr21:14892467-14892566	A549	lung:	n/a	n/a
36	CTCF	chr21:14683620-14683708	LNCaP	prostate:	n/a	n/a
37	CTCF	chr21:14892411-14892597	MCF-7	breast:	n/a	n/a
38	CTCF	chr21:14892452-14892583	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr21:14750116-14750215	LNCaP	prostate:	n/a	n/a
40	CTCF	chr21:14897991-14898038	GM13977	blood:	n/a	n/a
41	CTCF	chr21:14967729-14967749	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr21:14683620-14683725	MCF-7	breast:	n/a	n/a
43	CTCF	chr21:14993487-14993609	Lung_OC	lung:	n/a	n/a
44	CTCF	chr21:14742824-14742891	Lung_OC	lung:	n/a	n/a
45	CTCF	chr21:14710465-14710512	GM10248	blood:	n/a	n/a
46	CTCF	chr21:14843942-14843986	LNCaP	prostate:	n/a	n/a
47	CTCF	chr21:14778116-14778170	GM13977	blood:	n/a	n/a
48	CTCF	chr21:14713132-14713303	HUVEC	blood vessel:	n/a	chr21:14713204-14713220 chr21:14713198-14713219
49	CTCF	chr21:14713099-14713298	Lung_OC	lung:	n/a	chr21:14713204-14713220 chr21:14713198-14713219
50	CTCF	chr21:14868340-14868381	Medullo	brain:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:14982779-14982829	PANC-1	pancreas:	n/a
2	chr21:14982225-14982275	GM12892	blood:	n/a
3	chr21:14982350-14982400	Caco-2	colon:	n/a
4	chr21:14982779-14982829	HMEC	breast:	n/a
5	chr21:14982363-14982413	T-47D	breast:	n/a
6	chr21:14982363-14982413	HMEC	breast:	n/a
7	chr21:14982350-14982400	BJ	skin:	n/a
8	chr21:14982225-14982275	HUVEC	blood vessel:	n/a
9	chr21:14982363-14982413	SK-N-SH_RA	brain:	n/a
10	chr21:14982350-14982400	HIPEpiC	eye:	n/a
11	chr21:14982779-14982829	GM12891	blood:	n/a
12	chr21:14982225-14982275	GM06990	blood:	n/a
13	chr21:14982350-14982400	HCT-116	colon:	n/a
14	chr21:14982779-14982829	Hepatocyte	liver:	n/a
15	chr21:14982225-14982275	NHBE	bronchial:	n/a
16	chr21:14982363-14982413	HCT-116	colon:	n/a
17	chr21:14982225-14982275	GM12878	blood:	n/a
18	chr21:14982080-14982130	HCPEpiC	choroid plexus:	n/a
19	chr21:14981404-14981454	GM12891	blood:	n/a
20	chr21:14982225-14982275	HEK293	kidney:	embryo
21	chr21:14982779-14982829	AG10803	skin:	n/a
22	chr21:14982225-14982275	ovcar-3	ovarian:	n/a
23	chr21:14981404-14981454	PFSK-1	brain:	n/a
24	chr21:14982350-14982400	GM19239	blood:	n/a
25	chr21:14982350-14982400	MCF10A-Er-Src	breast:	n/a
26	chr21:14982363-14982413	ProgFib	skin:	n/a
27	chr21:14982779-14982829	A549	lung:	n/a
28	chr21:14981404-14981454	HRCEpiC	kidney:	n/a
29	chr21:14982779-14982829	HCF	heart:	n/a
30	chr21:14982080-14982130	GM19239	blood:	n/a
31	chr21:14982779-14982829	ovcar-3	ovarian:	n/a
32	chr21:14982225-14982275	NH-A	brain:	n/a
33	chr21:14982080-14982130	HNPCEpiC	eye:	n/a
34	chr21:14982779-14982829	NH-A	brain:	n/a
35	chr21:14982225-14982275	PANC-1	pancreas:	n/a
36	chr21:14982779-14982829	HepG2	liver:	n/a
37	chr21:14982350-14982400	HNPCEpiC	eye:	n/a
38	chr21:14982225-14982275	HRPEpiC	eye:	n/a
39	chr21:14981404-14981454	HEEpiC	esophagus:	n/a
40	chr21:14981404-14981454	IMR90	lung:	fetal
41	chr21:14982363-14982413	Jurkat	blood:	n/a
42	chr21:14982080-14982130	HRCEpiC	kidney:	n/a
43	chr21:14982225-14982275	Hepatocyte	liver:	n/a
44	chr21:14981404-14981454	NHBE	bronchial:	n/a
45	chr21:14982225-14982275	MCF10A-Er-Src	breast:	n/a
46	chr21:14982350-14982400	HepG2	liver:	n/a
47	chr21:14982350-14982400	HCF	heart:	n/a
48	chr21:14982350-14982400	NB4	blood:	n/a
49	chr21:14982363-14982413	Hepatocyte	liver:	n/a
50	chr21:14981404-14981454	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:14629664..14632607-chr21:14899242..14900976,2	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAGE4-7	chr21:14807106-14807331	expReg_chr21_145_-
2	lnc-BAGE4-4	chr21:14789321-14789544	expReg_chr21_131_-
3	lnc-BAGE4-2	chr21:14783236-14783504	expReg_chr21_122_-
4	lnc-POTED-1	chr21:14919301-14919449	NR_110544
5	lnc-POTED-1	chr21:14918354-14918444	NR_110544
6	lnc-POTED-7	chr21:14848692-14849584	NONHSAT081105
7	lnc-POTED-12	chr21:14687514-14687778	l_2166_chr21:14677648-14687775_brain
8	lnc-POTED-1	chr21:14918354-14918444	ENSG00000228159
9	lnc-BAGE4-6	chr21:14792037-14792496	expReg_chr21_135_-
10	lnc-POTED-1	chr21:14919301-14919449	ENSG00000228159
11	lnc-BAGE4-3	chr21:14787066-14787369	expReg_chr21_126_-
12	lnc-POTED-1	chr21:14930638-14930781	NR_110544
13	lnc-POTED-1	chr21:14928714-14928832	NR_110544
14	lnc-POTED-1	chr21:14930638-14930782	ENSG00000228159
15	lnc-POTED-1	chr21:14928714-14928832	ENSG00000228159
16	lnc-POTED-12	chr21:14677649-14677729	l_2166_chr21:14677648-14687775_brain
17	lnc-BAGE4-5	chr21:14789550-14789761	expReg_chr21_132_-

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3156-5p	chr21:14778752-14778773	MIMAT0015030_2

No data

Variant related genes	Relation type
OR4K11P	TF binding region
RNU6-286P	TF binding region
MIR3156-3	TF binding region
GTF2IP2	TF binding region
SNX19P1	TF binding region
VN1R8P	TF binding region
ANKRD30BP1	TF binding region
ENSG00000228159	TF binding region
FGF7P2	TF binding region
ENSG00000256715	TF binding region
POTED	TF binding region
OR4K12P	TF binding region
OR4K11P	CpG island
RNU6-286P	CpG island
MIR3156-3	CpG island
GTF2IP2	CpG island
SNX19P1	CpG island
VN1R8P	CpG island
ANKRD30BP1	CpG island
ENSG00000228159	CpG island
FGF7P2	CpG island
ENSG00000256715	CpG island
POTED	CpG island
OR4K12P	CpG island

Extended variants
information (count: 1955 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1955 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142211526	chr21:14619600-14619601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113971599	chr21:14619616-14619617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141460135	chr21:14619650-14619651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184749096	chr21:14619666-14619667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2997012	chr21:14619682-14619683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2997013	chr21:14619696-14619697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543406096	chr21:14619697-14619698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146970651	chr21:14619767-14619768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201232074	chr21:14619783-14619784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202154830	chr21:14619837-14619838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545571809	chr21:14619871-14619872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2334427	chr21:14619876-14619877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528655743	chr21:14619880-14619881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548508032	chr21:14619883-14619884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374289918	chr21:14619890-14619891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568383164	chr21:14619895-14619896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200381343	chr21:14619920-14619921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530837093	chr21:14619935-14619936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550516159	chr21:14619961-14619962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532816383	chr21:14620000-14620001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2997014	chr21:14620026-14620027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150232205	chr21:14620043-14620044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2259468	chr21:14620054-14620055	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs565892189	chr21:14620059-14620060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559337326	chr21:14620075-14620076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534795007	chr21:14620104-14620105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528051472	chr21:14620140-14620141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374908395	chr21:14620165-14620166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574755775	chr21:14620201-14620202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552388077	chr21:14620216-14620217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369683207	chr21:14620224-14620225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537045264	chr21:14620240-14620241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373112936	chr21:14620276-14620277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144688074	chr21:14620278-14620279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576761000	chr21:14620279-14620280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545912476	chr21:14620318-14620319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559168018	chr21:14620320-14620321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573119240	chr21:14620348-14620349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2259427	chr21:14620359-14620360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs112689261	chr21:14667211-14667212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192535622	chr21:14667227-14667228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560316770	chr21:14667233-14667234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7275943	chr21:14667238-14667239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142040374	chr21:14667240-14667241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562798966	chr21:14667242-14667243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145899499	chr21:14667254-14667255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551435107	chr21:14667270-14667271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528259434	chr21:14667296-14667297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568604593	chr21:14667367-14667368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184922724	chr21:14667414-14667415	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21785460	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14619600-14620400	Enhancers	Brain Hippocampus Middle	brain
2	chr21:14667200-14668400	Enhancers	Brain Hippocampus Middle	brain
3	chr21:14676000-14676200	Enhancers	Liver	Liver
4	chr21:14676000-14676800	Enhancers	Brain Anterior Caudate	brain
5	chr21:14676200-14676800	Weak transcription	Liver	Liver
6	chr21:14676800-14677600	Enhancers	Liver	Liver
7	chr21:14677600-14682400	Weak transcription	Liver	Liver
8	chr21:14682400-14682800	Enhancers	Liver	Liver
9	chr21:14733400-14733800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr21:14740600-14741200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:14742800-14743200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:14742800-14743800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr21:14743000-14743800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr21:14743400-14743800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr21:14751400-14752800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:14752200-14752600	Active TSS	Primary T cells from cord blood	blood
17	chr21:14794200-14795400	Enhancers	Dnd41	blood
18	chr21:14866000-14867000	Enhancers	Dnd41	blood
19	chr21:14867000-14869000	Weak transcription	Dnd41	blood
20	chr21:14869000-14872400	Enhancers	Dnd41	blood
21	chr21:14888000-14888200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:14900000-14900400	ZNF genes & repeats	Dnd41	blood
23	chr21:14900400-14901400	Weak transcription	Dnd41	blood
24	chr21:14901400-14904800	Enhancers	Dnd41	blood
25	chr21:14916600-14920000	Enhancers	Dnd41	blood
26	chr21:14917000-14917600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr21:14920000-14922800	Weak transcription	Dnd41	blood
28	chr21:14922800-14923600	Enhancers	Dnd41	blood
29	chr21:14924200-14924400	Enhancers	Dnd41	blood
30	chr21:14965200-14966200	Enhancers	Dnd41	blood
31	chr21:14983000-14983200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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