Variant report

Variant	rs2967545
Chromosome Location	chr19:36983986-36983987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IKZF1	chr19:36983786-36984277	GM12878	blood:	n/a	n/a
2	RAD21	chr19:36983940-36984413	ECC-1	luminal epithelium:	n/a	n/a
3	PAX5	chr19:36983782-36984218	GM12891	blood:	n/a	n/a
4	CTCF	chr19:36983960-36984110	HAc	cerebellar:	n/a	n/a
5	RUNX3	chr19:36983937-36984309	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr19:36983907-36984204	GM12878	blood:	n/a	n/a
7	RUNX3	chr19:36983865-36984269	GM12878	blood:	n/a	n/a
8	CTCF	chr19:36983874-36984357	SK-N-SH	brain:	n/a	n/a
9	SETDB1	chr19:36983867-36984310	U2OS	brain:	n/a	n/a
10	RAD21	chr19:36983980-36984417	HepG2	liver:	n/a	n/a
11	PAX5	chr19:36983825-36984297	GM12878	blood:	n/a	n/a
12	SP1	chr19:36983845-36984298	GM12878	blood:	n/a	n/a
13	RAD21	chr19:36983940-36984422	A549	lung:	n/a	n/a
14	RAD21	chr19:36983843-36984413	SK-N-SH	brain:	n/a	n/a
15	PAX5	chr19:36983899-36984168	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:36983976-36984416	PANC-1	pancreas:	n/a	n/a
17	KAP1	chr19:36983957-36984306	HEK293	kidney:	n/a	n/a
18	TCF12	chr19:36983793-36984184	GM12878	blood:	n/a	n/a
19	RAD21	chr19:36983928-36984403	HCT-116	colon:	n/a	n/a
20	CTCF	chr19:36983830-36984822	A549	lung:	n/a	n/a
21	EBF1	chr19:36983890-36984268	GM12878	blood:	n/a	n/a
22	ZNF143	chr19:36983975-36984330	H1-hESC	embryonic stem cell:	n/a	n/a
23	BHLHE40	chr19:36983648-36984011	GM12878	blood:	n/a	n/a
24	EBF1	chr19:36983906-36984245	GM12878	blood:	n/a	n/a
25	EBF1	chr19:36983886-36984292	GM12878	blood:	n/a	n/a
26	PAX5	chr19:36983810-36984305	GM12878	blood:	n/a	n/a
27	PAX5	chr19:36983784-36984187	GM12891	blood:	n/a	n/a
28	PAX5	chr19:36983800-36984225	GM12878	blood:	n/a	n/a
29	CBX3	chr19:36983957-36984274	K562	blood:	n/a	n/a
30	EP300	chr19:36983898-36984083	GM12878	blood:	n/a	n/a
31	TCF12	chr19:36983870-36984353	A549	lung:	n/a	n/a
32	SMC3	chr19:36983938-36984375	SK-N-SH	brain:	n/a	n/a
33	POU2F2	chr19:36983917-36984284	GM12891	blood:	n/a	n/a
34	RAD21	chr19:36983895-36984386	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36982470..36984222-chr19:37017696..37019546,2	K562	blood:
2	chr19:36977221..36979834-chr19:36983552..36985787,2	K562	blood:

No data

Variant related genes	Relation type
ZNF566	TF binding region
ENSG00000254004	Chromatin interaction
ENSG00000228629	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2052728	0.82[ASN][1000 genomes]
rs2162296	0.80[ASN][1000 genomes]
rs2194976	0.82[ASN][1000 genomes]
rs2912399	0.82[ASN][1000 genomes]
rs2912400	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2912404	0.80[ASN][1000 genomes]
rs2912408	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2912412	0.82[ASN][1000 genomes]
rs2912440	0.81[ASN][1000 genomes]
rs2912442	0.83[ASN][1000 genomes]
rs2912443	0.82[ASN][1000 genomes]
rs2912444	0.82[ASN][1000 genomes]
rs2912446	0.82[ASN][1000 genomes]
rs2945964	0.83[ASN][1000 genomes]
rs2945978	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2967429	0.80[ASN][1000 genomes]
rs2967437	0.81[ASN][1000 genomes]
rs2967438	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2967439	0.81[ASN][1000 genomes]
rs2967440	0.81[ASN][1000 genomes]
rs2967442	0.81[ASN][1000 genomes]
rs2967463	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967464	0.83[ASN][1000 genomes]
rs2967473	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096620	0.82[ASN][1000 genomes]
rs3096637	0.83[ASN][1000 genomes]
rs6510551	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36981400-36984200	Weak transcription	Stomach Mucosa	stomach
2	chr19:36981400-36987800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:36983200-36984200	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:36983200-36984200	ZNF genes & repeats	GM12878-XiMat	blood

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