Variant report

Variant	esv2830286
Chromosome Location	chr21:14469594-15007545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:598)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:19)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:598 , 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	chr21:14528330-14528648	GM12878	blood:	n/a	n/a
2	BATF	chr21:14528975-14529175	GM12878	blood:	n/a	n/a
3	BATF	chr21:14544106-14544347	GM12878	blood:	n/a	chr21:14544231-14544240
4	BATF	chr21:14607219-14607387	GM12878	blood:	n/a	chr21:14607350-14607360
5	BATF	chr21:14527860-14528095	GM12878	blood:	n/a	n/a
6	BATF	chr21:14480794-14481018	GM12878	blood:	n/a	chr21:14480939-14480950
7	BATF	chr21:14527906-14528142	GM12878	blood:	n/a	n/a
8	BATF	chr21:14576663-14576926	GM12878	blood:	n/a	n/a
9	BATF	chr21:14480770-14481109	GM12878	blood:	n/a	chr21:14480939-14480950
10	BCL11A	chr21:14527852-14528170	GM12878	blood:	n/a	n/a
11	BCL11A	chr21:14511452-14511619	GM12878	blood:	n/a	n/a
12	BCL11A	chr21:14576522-14576986	GM12878	blood:	n/a	n/a
13	BCL11A	chr21:14527880-14528210	GM12878	blood:	n/a	n/a
14	BCL11A	chr21:14576661-14576919	GM12878	blood:	n/a	n/a
15	CEBPB	chr21:14616993-14617191	HepG2	liver:	n/a	chr21:14617135-14617146
16	CEBPB	chr21:14927795-14927928	HepG2	liver:	n/a	n/a
17	CEBPB	chr21:14616982-14617279	IMR90	lung:	n/a	chr21:14617135-14617146
18	CEBPB	chr21:14748547-14748799	IMR90	lung:	n/a	chr21:14748653-14748664
19	CEBPB	chr21:14748544-14748767	A549	lung:	n/a	chr21:14748653-14748664
20	CEBPB	chr21:14478744-14478794	HepG2	liver:	n/a	chr21:14478768-14478779
21	CEBPB	chr21:14748543-14748761	HepG2	liver:	n/a	chr21:14748653-14748664
22	CTCF	chr21:14980834-14980883	Lung_OC	lung:	n/a	n/a
23	CTCF	chr21:14502889-14502918	LNCaP	prostate:	n/a	n/a
24	CTCF	chr21:14555607-14555667	Medullo	brain:	n/a	n/a
25	CTCF	chr21:14772178-14772205	MCF-7	breast:	n/a	n/a
26	CTCF	chr21:14742700-14742850	HEK293	kidney:	n/a	n/a
27	CTCF	chr21:14742729-14742854	LNCaP	prostate:	n/a	n/a
28	CTCF	chr21:14713105-14713320	LNCaP	prostate:	n/a	chr21:14713204-14713220 chr21:14713198-14713219
29	CTCF	chr21:14568701-14568852	MCF-7	breast:	n/a	n/a
30	CTCF	chr21:14787057-14787167	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr21:14718299-14718338	Lung_OC	lung:	n/a	n/a
32	CTCF	chr21:14911640-14911790	HEK293	kidney:	n/a	n/a
33	CTCF	chr21:15002095-15002145	GM13977	blood:	n/a	n/a
34	CTCF	chr21:14859171-14859342	MCF-7	breast:	n/a	n/a
35	CTCF	chr21:14897471-14897513	GM20000	blood:	n/a	n/a
36	CTCF	chr21:14961250-14961273	GM19239	blood:	n/a	n/a
37	CTCF	chr21:14615823-14615927	GM20000	blood:	n/a	n/a
38	CTCF	chr21:14560507-14560642	Medullo	brain:	n/a	n/a
39	CTCF	chr21:14491810-14491882	LNCaP	prostate:	n/a	n/a
40	CTCF	chr21:14598820-14598970	GM12865	blood:	n/a	n/a
41	CTCF	chr21:14632050-14632167	GM20000	blood:	n/a	n/a
42	CTCF	chr21:14713311-14713317	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr21:14911697-14911775	Gliobla	brain:	n/a	n/a
44	CTCF	chr21:14955094-14955165	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr21:14746915-14746931	LNCaP	prostate:	n/a	n/a
46	CTCF	chr21:14568697-14568769	LNCaP	prostate:	n/a	n/a
47	CTCF	chr21:14885943-14886012	Lung_OC	lung:	n/a	n/a
48	CTCF	chr21:14891594-14891675	LNCaP	prostate:	n/a	n/a
49	CTCF	chr21:14761313-14761373	GM20000	blood:	n/a	n/a
50	CTCF	chr21:14742715-14742938	LNCaP	prostate:	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	chr21:14982363-14982413	NHBE	bronchial:	n/a
2	chr21:14981404-14981454	HMEC	breast:	n/a
3	chr21:14982363-14982413	K562	blood:	n/a
4	chr21:14981404-14981454	Jurkat	blood:	n/a
5	chr21:14981404-14981454	GM12891	blood:	n/a
6	chr21:14982225-14982275	SKMC	muscle:	n/a
7	chr21:14982363-14982413	ProgFib	skin:	n/a
8	chr21:14981404-14981454	ECC-1	luminal epithelium:	n/a
9	chr21:14981404-14981454	HRE	kidney:	n/a
10	chr21:14982350-14982400	NH-A	brain:	n/a
11	chr21:14982363-14982413	HRCEpiC	kidney:	n/a
12	chr21:14982080-14982130	AG04449	skin:	fetal
13	chr21:14982363-14982413	AG09309	skin:	n/a
14	chr21:14982779-14982829	ovcar-3	ovarian:	n/a
15	chr21:14982779-14982829	Hela-S3	cervix:	n/a
16	chr21:14982080-14982130	GM12891	blood:	n/a
17	chr21:14982225-14982275	PFSK-1	brain:	n/a
18	chr21:14982350-14982400	BE2_C	brain:	n/a
19	chr21:14982779-14982829	Caco-2	colon:	n/a
20	chr21:14982350-14982400	AoSMC	blood vessel:	n/a
21	chr21:14982225-14982275	NH-A	brain:	n/a
22	chr21:14982350-14982400	NB4	blood:	n/a
23	chr21:14982779-14982829	T-47D	breast:	n/a
24	chr21:14982225-14982275	AG09319	gingival:	n/a
25	chr21:14982363-14982413	MCF10A-Er-Src	breast:	n/a
26	chr21:14982350-14982400	Caco-2	colon:	n/a
27	chr21:14982350-14982400	HIPEpiC	eye:	n/a
28	chr21:14982779-14982829	NHBE	bronchial:	n/a
29	chr21:14982350-14982400	NHBE	bronchial:	n/a
30	chr21:14982225-14982275	AoSMC	blood vessel:	n/a
31	chr21:14982350-14982400	HRCEpiC	kidney:	n/a
32	chr21:14982080-14982130	BJ	skin:	n/a
33	chr21:14982779-14982829	NH-A	brain:	n/a
34	chr21:14981404-14981454	HRCEpiC	kidney:	n/a
35	chr21:14982779-14982829	GM12892	blood:	n/a
36	chr21:14982363-14982413	HAEpiC	amniotic membrane:	n/a
37	chr21:14981404-14981454	PrEC	prostate:	n/a
38	chr21:14981404-14981454	HAEpiC	amniotic membrane:	n/a
39	chr21:14982350-14982400	MCF10A-Er-Src	breast:	n/a
40	chr21:14982225-14982275	HL-60	blood:	n/a
41	chr21:14982363-14982413	HL-60	blood:	n/a
42	chr21:14982225-14982275	Hela-S3	cervix:	n/a
43	chr21:14982080-14982130	SAEC	small airway:	n/a
44	chr21:14982080-14982130	ECC-1	luminal epithelium:	n/a
45	chr21:14982779-14982829	HNPCEpiC	eye:	n/a
46	chr21:14982350-14982400	ECC-1	luminal epithelium:	n/a
47	chr21:14982779-14982829	HAEpiC	amniotic membrane:	n/a
48	chr21:14982350-14982400	HepG2	liver:	n/a
49	chr21:14982363-14982413	HMEC	breast:	n/a
50	chr21:14982350-14982400	HEK293	kidney:	embryo

(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:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAGE4-2	chr21:14783236-14783504	expReg_chr21_122_-
2	lnc-BAGE4-6	chr21:14792037-14792496	expReg_chr21_135_-
3	lnc-POTED-1	chr21:14928714-14928832	NR_110544
4	lnc-POTED-1	chr21:14930638-14930781	NR_110544
5	lnc-BAGE4-3	chr21:14787066-14787369	expReg_chr21_126_-
6	lnc-POTED-1	chr21:14918354-14918444	NR_110544
7	lnc-POTED-12	chr21:14677649-14677729	l_2166_chr21:14677648-14687775_brain
8	lnc-POTED-1	chr21:14928714-14928832	ENSG00000228159
9	lnc-POTED-1	chr21:14918354-14918444	ENSG00000228159
10	lnc-POTED-13	chr21:14492565-14493128	NONHSAT081097
11	lnc-POTED-7	chr21:14848692-14849584	NONHSAT081105
12	lnc-POTED-1	chr21:14919301-14919449	NR_110544
13	lnc-BAGE4-7	chr21:14807106-14807331	expReg_chr21_145_-
14	lnc-POTED-1	chr21:14919301-14919449	ENSG00000228159
15	lnc-BAGE4-4	chr21:14789321-14789544	expReg_chr21_131_-
16	lnc-POTED-1	chr21:14930638-14930782	ENSG00000228159
17	lnc-POTED-12	chr21:14687514-14687778	l_2166_chr21:14677648-14687775_brain
18	lnc-POTED-4	chr21:14490159-14490571	NR_026916
19	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
ZNF355P	TF binding region
GTF2IP2	TF binding region
ENSG00000237202	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
ZNF355P	CpG island
GTF2IP2	CpG island
ENSG00000237202	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: 2025 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2025 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577090876	chr21:14490194-14490195	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs545769286	chr21:14490241-14490242	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs559127657	chr21:14490254-14490255	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs528189781	chr21:14490372-14490373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs541479882	chr21:14490386-14490387	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs561458226	chr21:14490395-14490396	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs572046012	chr21:14490423-14490424	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs530972508	chr21:14490447-14490448	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs147500365	chr21:14490467-14490468	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs571100349	chr21:14490493-14490494	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs533487679	chr21:14490494-14490495	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs546963004	chr21:14490525-14490526	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs199933318	chr21:14490699-14490700	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs200740846	chr21:14490702-14490703	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs201930719	chr21:14490733-14490734	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs62213093	chr21:14490788-14490789	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs538383374	chr21:14491767-14491768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550751466	chr21:14491776-14491777	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570508711	chr21:14491784-14491785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs539630863	chr21:14491842-14491843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs552960175	chr21:14491879-14491880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549389998	chr21:14492365-14492366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs562918523	chr21:14492405-14492406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs531742202	chr21:14492408-14492409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs551545245	chr21:14492412-14492413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs200022930	chr21:14492418-14492419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs4618136	chr21:14492425-14492426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs77002763	chr21:14492477-14492478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs74970892	chr21:14492478-14492479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571731832	chr21:14492524-14492525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs539231181	chr21:14492529-14492530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs546799391	chr21:14492598-14492599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs565828827	chr21:14492614-14492615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs201704248	chr21:14492644-14492645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs200282025	chr21:14492660-14492661	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs201188897	chr21:14492695-14492696	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs201905951	chr21:14492725-14492726	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs200566878	chr21:14492759-14492760	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs554938181	chr21:14492776-14492777	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs553403805	chr21:14492777-14492778	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs73891562	chr21:14492784-14492785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs199578541	chr21:14492811-14492812	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs574845827	chr21:14492870-14492871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs374202436	chr21:14492923-14492924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200034717	chr21:14492940-14492941	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs4079730	chr21:14492998-14492999	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs537856022	chr21:14493029-14493030	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs200744800	chr21:14493038-14493039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs201547537	chr21:14493044-14493045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs4079729	chr21:14493046-14493047	Inactive region	lncRNA	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
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
Breast cancer	21785460	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14497200-14497400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr21:14619600-14620400	Enhancers	Brain Hippocampus Middle	brain
3	chr21:14667200-14668400	Enhancers	Brain Hippocampus Middle	brain
4	chr21:14676000-14676200	Enhancers	Liver	Liver
5	chr21:14676000-14676800	Enhancers	Brain Anterior Caudate	brain
6	chr21:14676200-14676800	Weak transcription	Liver	Liver
7	chr21:14676800-14677600	Enhancers	Liver	Liver
8	chr21:14677600-14682400	Weak transcription	Liver	Liver
9	chr21:14682400-14682800	Enhancers	Liver	Liver
10	chr21:14733400-14733800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:14740600-14741200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr21:14742800-14743200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:14742800-14743800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr21:14743000-14743800	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr21:14743400-14743800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr21:14751400-14752800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:14752200-14752600	Active TSS	Primary T cells from cord blood	blood
18	chr21:14794200-14795400	Enhancers	Dnd41	blood
19	chr21:14866000-14867000	Enhancers	Dnd41	blood
20	chr21:14867000-14869000	Weak transcription	Dnd41	blood
21	chr21:14869000-14872400	Enhancers	Dnd41	blood
22	chr21:14888000-14888200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:14900000-14900400	ZNF genes & repeats	Dnd41	blood
24	chr21:14900400-14901400	Weak transcription	Dnd41	blood
25	chr21:14901400-14904800	Enhancers	Dnd41	blood
26	chr21:14916600-14920000	Enhancers	Dnd41	blood
27	chr21:14917000-14917600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr21:14920000-14922800	Weak transcription	Dnd41	blood
29	chr21:14922800-14923600	Enhancers	Dnd41	blood
30	chr21:14924200-14924400	Enhancers	Dnd41	blood
31	chr21:14965200-14966200	Enhancers	Dnd41	blood
32	chr21:14983000-14983200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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