Variant report

Variant	rs569380254
Chromosome Location	chr21:47453903-47453904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr21:47453778-47454287	HepG2	liver:	n/a	chr21:47454028-47454037
2	FOXA1	chr21:47453736-47454219	HepG2	liver:	n/a	n/a
3	RCOR1	chr21:47453752-47454300	IMR90	lung:	n/a	n/a
4	FOXA1	chr21:47453704-47454273	HepG2	liver:	n/a	n/a
5	HEY1	chr21:47453810-47454010	HepG2	liver:	n/a	n/a
6	SP1	chr21:47453794-47454254	HepG2	liver:	n/a	n/a
7	GABPA	chr21:47453439-47453991	K562	blood:	n/a	n/a
8	RXRA	chr21:47453569-47453964	HepG2	liver:	n/a	n/a
9	TAF1	chr21:47453667-47453953	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr21:47453727-47453943	K562	blood:	n/a	n/a
11	EP300	chr21:47453810-47454209	HepG2	liver:	n/a	n/a
12	TBP	chr21:47453826-47453936	H1-hESC	embryonic stem cell:	n/a	n/a
13	FOXA1	chr21:47453757-47454231	HepG2	liver:	n/a	n/a
14	JUN	chr21:47453760-47453916	H1-hESC	embryonic stem cell:	n/a	n/a
15	ARID3A	chr21:47453886-47454184	HepG2	liver:	n/a	n/a
16	FOXA1	chr21:47453832-47454208	HepG2	liver:	n/a	n/a
17	GABPA	chr21:47453598-47453921	HepG2	liver:	n/a	n/a
18	GABPA	chr21:47453599-47453923	HepG2	liver:	n/a	n/a
19	TEAD4	chr21:47453624-47454003	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr21:47453550-47454083	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr21:47453817-47454171	HepG2	liver:	n/a	n/a
22	CHD2	chr21:47453830-47453920	HepG2	liver:	n/a	n/a
23	MAX	chr21:47453672-47453959	K562	blood:	n/a	n/a
24	MAX	chr21:47453739-47454025	HepG2	liver:	n/a	n/a
25	HDAC2	chr21:47453897-47454230	HepG2	liver:	n/a	chr21:47454040-47454049
26	MAX	chr21:47453644-47454276	HepG2	liver:	n/a	n/a
27	HNF4A	chr21:47453886-47454219	HepG2	liver:	n/a	chr21:47453985-47453993
28	MAZ	chr21:47453652-47454262	IMR90	lung:	n/a	n/a
29	GABPA	chr21:47453683-47453992	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47453889-47453939	GM12892	blood:	n/a
2	chr21:47453889-47453939	AG09309	skin:	n/a
3	chr21:47453889-47453939	K562	blood:	n/a
4	chr21:47453889-47453939	PrEC	prostate:	n/a
5	chr21:47453889-47453939	BJ	skin:	n/a
6	chr21:47453889-47453939	SK-N-MC	brain:	n/a
7	chr21:47453889-47453939	HCT-116	colon:	n/a
8	chr21:47453889-47453939	AG04450	lung:	fetal
9	chr21:47453889-47453939	HCF	heart:	n/a
10	chr21:47453889-47453939	Caco-2	colon:	n/a
11	chr21:47453889-47453939	NHDF-neo	bronchial:	n/a
12	chr21:47453889-47453939	GM12891	blood:	n/a
13	chr21:47453889-47453939	HCPEpiC	choroid plexus:	n/a
14	chr21:47453889-47453939	AoSMC	blood vessel:	n/a
15	chr21:47453889-47453939	NHBE	bronchial:	n/a
16	chr21:47453889-47453939	HepG2	liver:	n/a
17	chr21:47453889-47453939	HEEpiC	esophagus:	n/a
18	chr21:47453889-47453939	SK-N-SH_RA	brain:	n/a
19	chr21:47453889-47453939	NB4	blood:	n/a
20	chr21:47453889-47453939	AG10803	skin:	n/a
21	chr21:47453889-47453939	IMR90	lung:	fetal
22	chr21:47453889-47453939	H1-hESC	embryonic stem cell:	embryo
23	chr21:47453889-47453939	HPAEpiC	pulmonary alveolar:	n/a
24	chr21:47453889-47453939	PFSK-1	brain:	n/a
25	chr21:47453889-47453939	HUVEC	blood vessel:	n/a
26	chr21:47453889-47453939	SAEC	small airway:	n/a
27	chr21:47453889-47453939	AG04449	skin:	fetal
28	chr21:47453889-47453939	HCM	heart:	n/a
29	chr21:47453889-47453939	Hepatocyte	liver:	n/a
30	chr21:47453889-47453939	T-47D	breast:	n/a
31	chr21:47453889-47453939	HL-60	blood:	n/a
32	chr21:47453889-47453939	LNCaP	prostate:	n/a
33	chr21:47453889-47453939	HNPCEpiC	eye:	n/a
34	chr21:47453889-47453939	ovcar-3	ovarian:	n/a
35	chr21:47453889-47453939	HAEpiC	amniotic membrane:	n/a
36	chr21:47453889-47453939	GM06990	blood:	n/a
37	chr21:47453889-47453939	AG09319	gingival:	n/a
38	chr21:47453889-47453939	GM12878	blood:	n/a
39	chr21:47453889-47453939	Hela-S3	cervix:	n/a
40	chr21:47453889-47453939	HIPEpiC	eye:	n/a
41	chr21:47453889-47453939	RPTEC	kidney:	n/a
42	chr21:47453889-47453939	SK-N-SH	brain:	n/a
43	chr21:47453889-47453939	Jurkat	blood:	n/a
44	chr21:47453889-47453939	ProgFib	skin:	n/a
45	chr21:47453889-47453939	PANC-1	pancreas:	n/a
46	chr21:47453889-47453939	NT2-D1	testis:	n/a
47	chr21:47453889-47453939	HRCEpiC	kidney:	n/a
48	chr21:47453889-47453939	A549	lung:	n/a
49	chr21:47453889-47453939	MCF-7	breast:	n/a
50	chr21:47453889-47453939	BE2_C	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47452931..47454985-chr21:47457105..47459208,2	K562	blood:
2	chr21:47452473..47454142-chr21:47459376..47461918,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224413	TF binding region
ENSG00000224413	CpG island

Extended variants
information (count: 36 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
2	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
4	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
6	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
8	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
9	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
10	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
11	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
12	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
13	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
14	esv1848879	chr21:47343462-47455584	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
15	nsv914087	chr21:47352625-47453954	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
16	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
17	nsv914089	chr21:47383056-47453954	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
18	nsv914090	chr21:47383056-47465205	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
19	nsv914091	chr21:47383056-47483799	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
20	esv1802000	chr21:47394780-47476081	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
21	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
22	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
23	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
24	esv1849213	chr21:47406836-47455584	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a
25	nsv459310	chr21:47409503-47488387	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
26	nsv587935	chr21:47409503-47488387	Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
27	nsv1062861	chr21:47434057-47568806	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
28	nsv531548	chr21:47439416-47516220	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
29	esv1830660	chr21:47441315-47465205	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
30	nsv914097	chr21:47445791-47505084	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
31	esv3455427	chr21:47452524-47457122	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
32	esv3455428	chr21:47452524-47457122	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
33	esv3331826	chr21:47453124-47456222	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
34	esv3504916	chr21:47453574-47456172	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
35	esv3504917	chr21:47453574-47456172	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
36	esv3504915	chr21:47453644-47455836	Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47445600-47458600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47448400-47455400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:47449400-47455400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr21:47449400-47458400	Weak transcription	Right Atrium	heart
5	chr21:47449600-47455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr21:47451800-47455600	Weak transcription	Left Ventricle	heart
7	chr21:47451800-47458000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:47452400-47454000	Enhancers	Placenta	Placenta
9	chr21:47452600-47454200	Enhancers	Fetal Stomach	stomach
10	chr21:47453200-47454000	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr21:47453200-47454400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:47453400-47454000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:47453400-47454200	Enhancers	Fetal Lung	lung
14	chr21:47453400-47454200	Flanking Active TSS	Ovary	ovary
15	chr21:47453600-47454000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:47453800-47454000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr21:47453800-47454000	Active TSS	HepG2	liver
18	chr21:47453800-47454200	Enhancers	Rectal Smooth Muscle	rectum

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