Variant report

Variant	rs5998522
Chromosome Location	chr22:21921278-21921279
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr22:21920593-21924521	K562	blood:	n/a	n/a
2	STAT5A	chr22:21920882-21924542	K562	blood:	n/a	n/a
3	CEBPB	chr22:21921125-21921433	HepG2	liver:	n/a	chr22:21921241-21921252
4	CEBPB	chr22:21921091-21921436	K562	blood:	n/a	chr22:21921241-21921252
5	RCOR1	chr22:21921098-21922253	K562	blood:	n/a	n/a
6	WRNIP1	chr22:21921163-21922138	GM12878	blood:	n/a	n/a
7	ZNF384	chr22:21920636-21922313	K562	blood:	n/a	n/a
8	CBX3	chr22:21921126-21922341	K562	blood:	n/a	n/a
9	STAT3	chr22:21921254-21921447	GM12878	blood:	n/a	n/a
10	CEBPB	chr22:21920987-21922233	K562	blood:	n/a	chr22:21921241-21921252
11	SPI1	chr22:21921128-21921463	K562	blood:	n/a	n/a
12	RCOR1	chr22:21921111-21922265	K562	blood:	n/a	n/a
13	NR2F2	chr22:21920634-21925112	K562	blood:	n/a	n/a
14	ZKSCAN1	chr22:21920993-21922991	Hela-S3	cervix:	n/a	n/a
15	EP300	chr22:21921224-21921430	GM12878	blood:	n/a	n/a
16	STAT5A	chr22:21920887-21921577	K562	blood:	n/a	n/a
17	TEAD4	chr22:21920871-21926468	K562	blood:	n/a	chr22:21925206-21925215
18	TRIM28	chr22:21921145-21926546	K562	blood:	n/a	n/a
19	ZNF143	chr22:21921067-21921361	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21921269-21921319	GM19239	blood:	n/a
2	chr22:21921269-21921319	LNCaP	prostate:	n/a
3	chr22:21921269-21921319	SAEC	small airway:	n/a
4	chr22:21921269-21921319	SK-N-SH	brain:	n/a
5	chr22:21921269-21921319	PrEC	prostate:	n/a
6	chr22:21921269-21921319	SK-N-MC	brain:	n/a
7	chr22:21921269-21921319	PANC-1	pancreas:	n/a
8	chr22:21921269-21921319	SK-N-SH_RA	brain:	n/a
9	chr22:21921269-21921319	AG04449	skin:	fetal
10	chr22:21921269-21921319	H1-hESC	embryonic stem cell:	embryo
11	chr22:21921269-21921319	T-47D	breast:	n/a
12	chr22:21921269-21921319	ovcar-3	ovarian:	n/a
13	chr22:21921269-21921319	AG10803	skin:	n/a
14	chr22:21921269-21921319	CMK	blood:	n/a
15	chr22:21921269-21921319	NH-A	brain:	n/a
16	chr22:21921269-21921319	MCF-7	breast:	n/a
17	chr22:21921269-21921319	HRCEpiC	kidney:	n/a
18	chr22:21921269-21921319	PFSK-1	brain:	n/a
19	chr22:21921269-21921319	IMR90	lung:	fetal
20	chr22:21921269-21921319	HepG2	liver:	n/a
21	chr22:21921269-21921319	U87	brain:	n/a
22	chr22:21921269-21921319	HRE	kidney:	n/a
23	chr22:21921269-21921319	HL-60	blood:	n/a
24	chr22:21921269-21921319	HCM	heart:	n/a
25	chr22:21921269-21921319	BJ	skin:	n/a
26	chr22:21921269-21921319	HEK293	kidney:	embryo
27	chr22:21921269-21921319	NHDF-neo	bronchial:	n/a
28	chr22:21921269-21921319	MCF10A-Er-Src	breast:	n/a
29	chr22:21921269-21921319	AG09309	skin:	n/a
30	chr22:21921269-21921319	HUVEC	blood vessel:	n/a
31	chr22:21921269-21921319	GM12892	blood:	n/a
32	chr22:21921269-21921319	Hepatocyte	liver:	n/a
33	chr22:21921269-21921319	HAEpiC	amniotic membrane:	n/a
34	chr22:21921269-21921319	BE2_C	brain:	n/a
35	chr22:21921269-21921319	NT2-D1	testis:	n/a
36	chr22:21921269-21921319	HCF	heart:	n/a
37	chr22:21921269-21921319	HMEC	breast:	n/a
38	chr22:21921269-21921319	AG09319	gingival:	n/a
39	chr22:21921269-21921319	SKMC	muscle:	n/a
40	chr22:21921269-21921319	NB4	blood:	n/a
41	chr22:21921269-21921319	ProgFib	skin:	n/a
42	chr22:21921269-21921319	GM06990	blood:	n/a
43	chr22:21921269-21921319	HEEpiC	esophagus:	n/a
44	chr22:21921269-21921319	AG04450	lung:	fetal
45	chr22:21921269-21921319	RPTEC	kidney:	n/a
46	chr22:21921269-21921319	NHBE	bronchial:	n/a
47	chr22:21921269-21921319	A549	lung:	n/a
48	chr22:21921269-21921319	ECC-1	luminal epithelium:	n/a
49	chr22:21921269-21921319	GM12891	blood:	n/a
50	chr22:21921269-21921319	Hela-S3	cervix:	n/a

(count:3 , 50 per page) page: 1

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	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:

No data

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 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	esv1818369	chr22:21686840-21921313	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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:9 , 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	chr22:21918400-21921400	Enhancers	K562	blood
4	chr22:21919200-21922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:21919600-21921800	Weak transcription	Thymus	Thymus
6	chr22:21921000-21921800	Enhancers	Pancreas	Pancrea
7	chr22:21921000-21922000	Enhancers	Spleen	Spleen
8	chr22:21921200-21921600	Enhancers	Primary B cells from peripheral blood	blood
9	chr22:21921200-21921600	Enhancers	HepG2	liver

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