Variant report

Variant	rs72770390
Chromosome Location	chr1:247391591-247391592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:247391580-247391730	HCPEpiC	choroid plexus:	n/a	n/a
2	FOXA2	chr1:247391551-247391738	HepG2	liver:	n/a	n/a
3	CTCF	chr1:247391580-247391730	K562	blood:	n/a	n/a
4	RAD21	chr1:247391522-247391780	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:247391540-247391690	A549	lung:	n/a	n/a
6	CTCF	chr1:247391493-247391814	K562	blood:	n/a	n/a
7	CTCF	chr1:247391586-247391707	Gliobla	brain:	n/a	n/a
8	ATF1	chr1:247391585-247391603	K562	blood:	n/a	n/a
9	CTCF	chr1:247391560-247391710	HFF	foreskin:	n/a	n/a
10	HCFC1	chr1:247391490-247391682	K562	blood:	n/a	n/a
11	POLR2A	chr1:247391374-247391630	K562	blood:	n/a	n/a
12	NFYB	chr1:247391500-247391731	Hela-S3	cervix:	n/a	chr1:247391585-247391600
13	CTCF	chr1:247391580-247391730	BE2_C	brain:	n/a	n/a
14	RCOR1	chr1:247391441-247391794	K562	blood:	n/a	n/a
15	FOXA1	chr1:247391511-247391818	HepG2	liver:	n/a	n/a
16	CTCF	chr1:247391520-247391670	HPAF	blood vessel:	n/a	n/a
17	RAD21	chr1:247391573-247391830	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZNF143	chr1:247391542-247391748	H1-hESC	embryonic stem cell:	n/a	n/a
19	CBX3	chr1:247390822-247391878	K562	blood:	n/a	n/a
20	RAD21	chr1:247391583-247391759	K562	blood:	n/a	n/a
21	IRF1	chr1:247391399-247391783	K562	blood:	n/a	n/a
22	NFYB	chr1:247391446-247391693	K562	blood:	n/a	chr1:247391585-247391600
23	JUND	chr1:247391315-247391711	K562	blood:	n/a	n/a
24	CTCF	chr1:247391566-247391767	K562	blood:	n/a	n/a
25	CTCF	chr1:247391560-247391710	AG09309	skin:	n/a	n/a
26	IRF1	chr1:247391445-247391718	K562	blood:	n/a	n/a
27	SPI1	chr1:247391436-247391592	K562	blood:	n/a	n/a
28	CTCF	chr1:247391560-247391710	NB4	blood:	n/a	n/a
29	RAD21	chr1:247391531-247391817	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr1:247391588-247391753	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr1:247391549-247391787	IMR90	lung:	n/a	n/a
32	CTCF	chr1:247391580-247391730	RPTEC	kidney:	n/a	n/a
33	ARID3A	chr1:247391534-247391673	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000214144	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12083552	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17720872	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41305576	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55932854	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56036028	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56123640	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56130102	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56212015	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56358623	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61087736	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72770359	0.89[AMR][1000 genomes]
rs72770361	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72770366	0.95[EUR][1000 genomes]
rs72770367	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72770371	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72770374	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72770379	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72770384	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72770391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
3	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
4	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	nsv916236	chr1:247124353-247409065	Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
6	nsv948419	chr1:247130577-247400404	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1002438	chr1:247173851-247401380	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
8	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
9	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
10	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
11	nsv945440	chr1:247391364-247400265	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247391200-247391600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:247391400-247391800	Active TSS	A549	lung

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