Variant report

Variant	esv2756190
Chromosome Location	chr21:14425542-14849628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:553)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:21)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:14480770-14481109	GM12878	blood:	n/a	chr21:14480939-14480950
2	BATF	chr21:14576663-14576926	GM12878	blood:	n/a	n/a
3	BATF	chr21:14480794-14481018	GM12878	blood:	n/a	chr21:14480939-14480950
4	BATF	chr21:14528975-14529175	GM12878	blood:	n/a	n/a
5	BATF	chr21:14527860-14528095	GM12878	blood:	n/a	n/a
6	BATF	chr21:14431955-14432235	GM12878	blood:	n/a	n/a
7	BATF	chr21:14528330-14528648	GM12878	blood:	n/a	n/a
8	BATF	chr21:14432320-14432818	GM12878	blood:	n/a	n/a
9	BATF	chr21:14607219-14607387	GM12878	blood:	n/a	chr21:14607350-14607360
10	BATF	chr21:14432376-14432735	GM12878	blood:	n/a	n/a
11	BATF	chr21:14431924-14432312	GM12878	blood:	n/a	n/a
12	BATF	chr21:14544106-14544347	GM12878	blood:	n/a	chr21:14544231-14544240
13	BATF	chr21:14527906-14528142	GM12878	blood:	n/a	n/a
14	BCL11A	chr21:14576522-14576986	GM12878	blood:	n/a	n/a
15	BCL11A	chr21:14527880-14528210	GM12878	blood:	n/a	n/a
16	BCL11A	chr21:14576661-14576919	GM12878	blood:	n/a	n/a
17	BCL11A	chr21:14431949-14432253	GM12878	blood:	n/a	n/a
18	BCL11A	chr21:14441151-14441415	GM12878	blood:	n/a	n/a
19	BCL11A	chr21:14527852-14528170	GM12878	blood:	n/a	n/a
20	BCL11A	chr21:14432430-14432720	GM12878	blood:	n/a	n/a
21	BCL11A	chr21:14511452-14511619	GM12878	blood:	n/a	n/a
22	BCL11A	chr21:14431887-14432820	GM12878	blood:	n/a	n/a
23	CEBPB	chr21:14616982-14617279	IMR90	lung:	n/a	chr21:14617135-14617146
24	CEBPB	chr21:14748543-14748761	HepG2	liver:	n/a	chr21:14748653-14748664
25	CEBPB	chr21:14616993-14617191	HepG2	liver:	n/a	chr21:14617135-14617146
26	CEBPB	chr21:14440696-14440835	K562	blood:	n/a	n/a
27	CEBPB	chr21:14748544-14748767	A549	lung:	n/a	chr21:14748653-14748664
28	CEBPB	chr21:14478744-14478794	HepG2	liver:	n/a	chr21:14478768-14478779
29	CEBPB	chr21:14440619-14440905	IMR90	lung:	n/a	n/a
30	CEBPB	chr21:14748547-14748799	IMR90	lung:	n/a	chr21:14748653-14748664
31	CTCF	chr21:14491766-14491881	Medullo	brain:	n/a	n/a
32	CTCF	chr21:14683607-14683723	MCF-7	breast:	n/a	n/a
33	CTCF	chr21:14761313-14761373	GM20000	blood:	n/a	n/a
34	CTCF	chr21:14734149-14734307	GM13976	blood:	n/a	n/a
35	CTCF	chr21:14632050-14632167	GM20000	blood:	n/a	n/a
36	CTCF	chr21:14754023-14754070	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr21:14475128-14475188	Lung_OC	lung:	n/a	n/a
38	CTCF	chr21:14626158-14626269	GM20000	blood:	n/a	n/a
39	CTCF	chr21:14672807-14672832	GM20000	blood:	n/a	n/a
40	CTCF	chr21:14722233-14722326	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr21:14742700-14742850	HEK293	kidney:	n/a	n/a
42	CTCF	chr21:14742659-14742973	A549	lung:	n/a	n/a
43	CTCF	chr21:14683610-14683736	MCF-7	breast:	n/a	n/a
44	CTCF	chr21:14479111-14479174	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr21:14734259-14734299	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr21:14459041-14459077	Lung_OC	lung:	n/a	n/a
47	CTCF	chr21:14568701-14568852	MCF-7	breast:	n/a	n/a
48	CTCF	chr21:14796012-14796087	LNCaP	prostate:	n/a	n/a
49	CTCF	chr21:14742715-14742938	LNCaP	prostate:	n/a	n/a
50	CTCF	chr21:14713188-14713274	GM10266	blood:	n/a	chr21:14713204-14713220 chr21:14713198-14713219

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-4	chr21:14439173-14439369	NR_026916
2	lnc-POTED-4	chr21:14490159-14490571	NR_026916
3	lnc-POTED-12	chr21:14677649-14677729	l_2166_chr21:14677648-14687775_brain
4	lnc-BAGE4-3	chr21:14787066-14787369	expReg_chr21_126_-
5	lnc-POTED-4	chr21:14439173-14439296	XLOC_013857
6	lnc-POTED-4	chr21:14435262-14435333	NONHSAT081096
7	lnc-BAGE4-7	chr21:14807106-14807331	expReg_chr21_145_-
8	lnc-BAGE4-4	chr21:14789321-14789544	expReg_chr21_131_-
9	lnc-POTED-7	chr21:14848692-14849584	NONHSAT081105
10	lnc-BAGE4-2	chr21:14783236-14783504	expReg_chr21_122_-
11	lnc-POTED-4	chr21:14437496-14438020	NR_026916
12	lnc-POTED-13	chr21:14492565-14493128	NONHSAT081097
13	lnc-BAGE4-6	chr21:14792037-14792496	expReg_chr21_135_-
14	lnc-POTED-4	chr21:14437894-14438020	XLOC_013857
15	lnc-POTED-4	chr21:14435161-14435279	NR_026916
16	lnc-POTED-4	chr21:14441496-14441613	NR_026916
17	lnc-POTED-4	chr21:14432787-14433204	NR_026916
18	lnc-POTED-4	chr21:14439853-14440186	NONHSAT081096
19	lnc-POTED-4	chr21:14435367-14437487	NONHSAT081096
20	lnc-BAGE4-5	chr21:14789550-14789761	expReg_chr21_132_-
21	lnc-POTED-12	chr21:14687514-14687778	l_2166_chr21:14677648-14687775_brain

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

No data

Variant related genes	Relation type
VN1R8P	TF binding region
ANKRD30BP1	TF binding region
MIR3156-3	TF binding region
FGF7P2	TF binding region
ENSG00000256715	TF binding region
ZNF355P	TF binding region
ENSG00000237202	TF binding region

Extended variants
information (count: 1522 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1522 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548250969	chr21:14432810-14432811	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs568188486	chr21:14432823-14432824	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs369773010	chr21:14432834-14432835	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs556128828	chr21:14432844-14432845	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs58904608	chr21:14432855-14432856	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs7410192	chr21:14432856-14432857	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs537637501	chr21:14432872-14432873	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs2821662	chr21:14432900-14432901	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs551156252	chr21:14432903-14432904	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs373662837	chr21:14432906-14432907	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs571060947	chr21:14432912-14432913	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs540098720	chr21:14432928-14432929	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs553406428	chr21:14432934-14432935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs573178695	chr21:14432944-14432945	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs535512214	chr21:14432947-14432948	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs555828989	chr21:14432973-14432974	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs4558665	chr21:14432993-14432994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2821663	chr21:14433036-14433037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs4095281	chr21:14433051-14433052	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs117486011	chr21:14433067-14433068	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs563095150	chr21:14433088-14433089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs28628312	chr21:14433092-14433093	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs61403234	chr21:14433102-14433103	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs576646553	chr21:14433125-14433126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs370196655	chr21:14433127-14433128	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs546042593	chr21:14433146-14433147	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs559421467	chr21:14433154-14433155	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs528067329	chr21:14433159-14433160	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs547922689	chr21:14433162-14433163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs561756102	chr21:14433164-14433165	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs530574837	chr21:14433170-14433171	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs550719230	chr21:14433175-14433176	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs535637979	chr21:14435171-14435172	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs549162296	chr21:14435198-14435199	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs569078177	chr21:14435211-14435212	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs3875790	chr21:14435254-14435255	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs11088933	chr21:14435292-14435293	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs538112551	chr21:14435293-14435294	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs3875791	chr21:14435301-14435302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs3865624	chr21:14435303-14435304	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs140601266	chr21:14435332-14435333	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs558045285	chr21:14435333-14435334	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs553580227	chr21:14435431-14435432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs542322191	chr21:14435435-14435436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs562695446	chr21:14435492-14435493	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs576250165	chr21:14435498-14435499	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs545362451	chr21:14435532-14435533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs565602168	chr21:14435585-14435586	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs527683598	chr21:14435588-14435589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs547813353	chr21:14435613-14435614	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
T-cell lymphomas	22341440	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD
abnormal development	18461090	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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14436200-14437000	Enhancers	Dnd41	blood
2	chr21:14497200-14497400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:14619600-14620400	Enhancers	Brain Hippocampus Middle	brain
4	chr21:14667200-14668400	Enhancers	Brain Hippocampus Middle	brain
5	chr21:14676000-14676200	Enhancers	Liver	Liver
6	chr21:14676000-14676800	Enhancers	Brain Anterior Caudate	brain
7	chr21:14676200-14676800	Weak transcription	Liver	Liver
8	chr21:14676800-14677600	Enhancers	Liver	Liver
9	chr21:14677600-14682400	Weak transcription	Liver	Liver
10	chr21:14682400-14682800	Enhancers	Liver	Liver
11	chr21:14733400-14733800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr21:14740600-14741200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr21:14742800-14743200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:14742800-14743800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr21:14743000-14743800	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr21:14743400-14743800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr21:14751400-14752800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:14752200-14752600	Active TSS	Primary T cells from cord blood	blood
19	chr21:14794200-14795400	Enhancers	Dnd41	blood

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