Variant report

Variant	nsv586991
Chromosome Location	chr21:14523349-14798806
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	BATF	chr21:14544106-14544347	GM12878	blood:	n/a	chr21:14544231-14544240
2	BATF	chr21:14527906-14528142	GM12878	blood:	n/a	n/a
3	BATF	chr21:14528330-14528648	GM12878	blood:	n/a	n/a
4	BATF	chr21:14576663-14576926	GM12878	blood:	n/a	n/a
5	BATF	chr21:14528975-14529175	GM12878	blood:	n/a	n/a
6	BATF	chr21:14527860-14528095	GM12878	blood:	n/a	n/a
7	BATF	chr21:14607219-14607387	GM12878	blood:	n/a	chr21:14607350-14607360
8	BCL11A	chr21:14527852-14528170	GM12878	blood:	n/a	n/a
9	BCL11A	chr21:14527880-14528210	GM12878	blood:	n/a	n/a
10	BCL11A	chr21:14576661-14576919	GM12878	blood:	n/a	n/a
11	BCL11A	chr21:14576522-14576986	GM12878	blood:	n/a	n/a
12	CEBPB	chr21:14616982-14617279	IMR90	lung:	n/a	chr21:14617135-14617146
13	CEBPB	chr21:14748543-14748761	HepG2	liver:	n/a	chr21:14748653-14748664
14	CEBPB	chr21:14748544-14748767	A549	lung:	n/a	chr21:14748653-14748664
15	CEBPB	chr21:14748547-14748799	IMR90	lung:	n/a	chr21:14748653-14748664
16	CEBPB	chr21:14616993-14617191	HepG2	liver:	n/a	chr21:14617135-14617146
17	CTCF	chr21:14713311-14713317	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr21:14743113-14743208	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr21:14750289-14750320	LNCaP	prostate:	n/a	n/a
20	CTCF	chr21:14713071-14713312	A549	lung:	n/a	chr21:14713204-14713220 chr21:14713198-14713219
21	CTCF	chr21:14797498-14797551	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr21:14722233-14722326	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr21:14658434-14658458	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr21:14616825-14616900	GM13976	blood:	n/a	n/a
25	CTCF	chr21:14713914-14713933	Fibrobl	skin:	n/a	n/a
26	CTCF	chr21:14797723-14797868	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr21:14615823-14615927	GM20000	blood:	n/a	n/a
28	CTCF	chr21:14683610-14683736	MCF-7	breast:	n/a	n/a
29	CTCF	chr21:14713126-14713290	MCF-7	breast:	n/a	chr21:14713204-14713220 chr21:14713198-14713219
30	CTCF	chr21:14772117-14772209	MCF-7	breast:	n/a	n/a
31	CTCF	chr21:14713177-14713262	HepG2	liver:	n/a	chr21:14713204-14713220 chr21:14713198-14713219
32	CTCF	chr21:14676258-14676304	GM13976	blood:	n/a	n/a
33	CTCF	chr21:14710465-14710512	GM10248	blood:	n/a	n/a
34	CTCF	chr21:14568701-14568852	MCF-7	breast:	n/a	n/a
35	CTCF	chr21:14742900-14743050	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr21:14787057-14787167	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr21:14683620-14683725	MCF-7	breast:	n/a	n/a
38	CTCF	chr21:14617799-14617867	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr21:14620123-14620178	GM20000	blood:	n/a	n/a
40	CTCF	chr21:14583138-14583163	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr21:14734149-14734307	GM13976	blood:	n/a	n/a
42	CTCF	chr21:14619819-14619919	GM20000	blood:	n/a	n/a
43	CTCF	chr21:14742824-14742855	MCF-7	breast:	n/a	n/a
44	CTCF	chr21:14632050-14632167	GM20000	blood:	n/a	n/a
45	CTCF	chr21:14778116-14778170	GM13977	blood:	n/a	n/a
46	CTCF	chr21:14670631-14670650	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr21:14713179-14713254	ProgFib	skin:	n/a	chr21:14713204-14713220 chr21:14713198-14713219
48	CTCF	chr21:14626042-14626069	ProgFib	skin:	n/a	n/a
49	CTCF	chr21:14742715-14742938	LNCaP	prostate:	n/a	n/a
50	CTCF	chr21:14713171-14713264	K562	blood:	n/a	chr21:14713204-14713220 chr21:14713198-14713219

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAGE4-2	chr21:14783236-14783504	expReg_chr21_122_-
2	lnc-BAGE4-4	chr21:14789321-14789544	expReg_chr21_131_-
3	lnc-POTED-12	chr21:14687514-14687778	l_2166_chr21:14677648-14687775_brain
4	lnc-BAGE4-6	chr21:14792037-14792496	expReg_chr21_135_-
5	lnc-POTED-12	chr21:14677649-14677729	l_2166_chr21:14677648-14687775_brain
6	lnc-BAGE4-3	chr21:14787066-14787369	expReg_chr21_126_-
7	lnc-BAGE4-5	chr21:14789550-14789761	expReg_chr21_132_-

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

Variant related genes	Relation type
ANKRD30BP1	TF binding region
MIR3156-3	TF binding region
FGF7P2	TF binding region
ENSG00000256715	TF binding region

Extended variants
information (count: 1031 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1031 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

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:60)

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

Chromatin state (count:17 , 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

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