Variant report

Variant	rs569219689
Chromosome Location	chr22:21921599-21921600
allele	A/C
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	GABPA	chr22:21921481-21923217	K562	blood:	n/a	n/a
2	ETS1	chr22:21921574-21923716	K562	blood:	n/a	chr22:21923017-21923030 chr22:21921947-21921958 chr22:21921960-21921971 chr22:21921961-21921972 chr22:21921960-21921974
3	CBX3	chr22:21920593-21924521	K562	blood:	n/a	n/a
4	STAT5A	chr22:21920882-21924542	K562	blood:	n/a	n/a
5	RCOR1	chr22:21921098-21922253	K562	blood:	n/a	n/a
6	TEAD4	chr22:21921556-21923563	K562	blood:	n/a	n/a
7	EGR1	chr22:21921559-21922417	K562	blood:	n/a	chr22:21921960-21921969 chr22:21921945-21921959 chr22:21921948-21921961
8	MAX	chr22:21921549-21923561	K562	blood:	n/a	n/a
9	ELF1	chr22:21921477-21922787	GM12878	blood:	n/a	n/a
10	WRNIP1	chr22:21921163-21922138	GM12878	blood:	n/a	n/a
11	NR2F2	chr22:21921531-21922362	K562	blood:	n/a	n/a
12	ZNF384	chr22:21920636-21922313	K562	blood:	n/a	n/a
13	CBX3	chr22:21921126-21922341	K562	blood:	n/a	n/a
14	CEBPB	chr22:21920987-21922233	K562	blood:	n/a	chr22:21921241-21921252
15	GTF3C2	chr22:21921457-21922245	K562	blood:	n/a	n/a
16	THAP1	chr22:21921572-21922790	K562	blood:	n/a	n/a
17	RCOR1	chr22:21921111-21922265	K562	blood:	n/a	n/a
18	NR2F2	chr22:21920634-21925112	K562	blood:	n/a	n/a
19	POLR2A	chr22:21921563-21922464	PFSK-1	brain:	n/a	n/a
20	ZKSCAN1	chr22:21920993-21922991	Hela-S3	cervix:	n/a	n/a
21	TEAD4	chr22:21920871-21926468	K562	blood:	n/a	chr22:21925206-21925215
22	FOXM1	chr22:21921591-21922384	GM12878	blood:	n/a	n/a
23	KAP1	chr22:21921463-21923306	K562	blood:	n/a	n/a
24	TRIM28	chr22:21921145-21926546	K562	blood:	n/a	n/a
25	PML	chr22:21921575-21923523	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:21920647..21924218-chr22:21994881..21998096,5	MCF-7	breast:
2	chr22:21920727..21924429-chr22:22006455..22008474,3	MCF-7	breast:
3	chr20:49546476..49548738-chr22:21921516..21923782,2	K562	blood:
4	chr22:21921535..21923886-chr22:21982326..21985629,8	MCF-7	breast:
5	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:

Variant related genes	Relation type
UBE2L3	TF binding region
ENSG00000207751	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000212102	Chromatin interaction
ENSG00000161180	Chromatin interaction
ENSG00000273342	Chromatin interaction
ENSG00000259456	Chromatin interaction
ENSG00000101126	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1797853	chr22:21445008-21927194	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1065383	chr22:21462233-21929649	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv1815888	chr22:21486890-21947822	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv1801244	chr22:21509361-21924072	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1065490	chr22:21567219-21949226	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1056096	chr22:21567219-21951562	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv1825387	chr22:21609069-21932052	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	esv1829198	chr22:21618311-21928852	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv1830853	chr22:21657204-21932252	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1797475	chr22:21683210-21950089	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	esv1816994	chr22:21683210-21950089	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	esv1824349	chr22:21683210-21950089	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	esv1826188	chr22:21683210-21950089	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	esv1851345	chr22:21683210-21950089	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv428386	chr22:21683210-21950089	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
16	esv1844701	chr22:21699366-21928852	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
17	esv1850694	chr22:21710291-21926222	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
18	esv1813971	chr22:21711706-21924058	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	esv1807804	chr22:21726851-21928852	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
20	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
21	nsv834145	chr22:21775069-21950089	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
22	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
23	nsv1064360	chr22:21809185-21951562	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
24	nsv1067125	chr22:21815854-21927890	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv1060781	chr22:21815854-21929649	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
26	esv3408427	chr22:21920977-21923825	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21910600-21921800	Weak transcription	Right Atrium	heart
2	chr22:21914400-21921600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:21919200-21922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr22:21919600-21921800	Weak transcription	Thymus	Thymus
5	chr22:21921000-21921800	Enhancers	Pancreas	Pancrea
6	chr22:21921000-21922000	Enhancers	Spleen	Spleen
7	chr22:21921200-21921600	Enhancers	Primary B cells from peripheral blood	blood
8	chr22:21921200-21921600	Enhancers	HepG2	liver
9	chr22:21921400-21921600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr22:21921400-21921600	Enhancers	Placenta	Placenta
11	chr22:21921400-21921800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr22:21921400-21921800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:21921400-21922800	Active TSS	K562	blood

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