Variant report

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr12:83544419-83545000	K562	blood:	n/a	n/a
2	EP300	chr12:83544313-83545012	K562	blood:	n/a	n/a
3	CTCF	chr12:83544849-83545175	K562	blood:	n/a	n/a
4	JUND	chr12:83544331-83545000	K562	blood:	n/a	n/a
5	GATA3	chr12:83544408-83545055	SK-N-SH	brain:	n/a	n/a
6	RCOR1	chr12:83544248-83545013	K562	blood:	n/a	n/a
7	MAFK	chr12:83544718-83544973	HepG2	liver:	n/a	n/a
8	EP300	chr12:83544585-83545000	SK-N-SH_RA	brain:	n/a	n/a
9	ARID3A	chr12:83543919-83544914	K562	blood:	n/a	n/a
10	TEAD4	chr12:83544153-83545129	K562	blood:	n/a	n/a
11	CEBPD	chr12:83544205-83545050	K562	blood:	n/a	n/a
12	GATA3	chr12:83544511-83545039	SK-N-SH	brain:	n/a	n/a
13	CEBPB	chr12:83544426-83544965	K562	blood:	n/a	n/a
14	POLR2A	chr12:83544636-83544938	K562	blood:	n/a	n/a
15	NR2F2	chr12:83544593-83545011	K562	blood:	n/a	n/a
16	GATA3	chr12:83544521-83544956	SH-SY5Y	brain:	n/a	n/a
17	CEBPD	chr12:83544238-83545032	K562	blood:	n/a	n/a
18	STAT5A	chr12:83544309-83544951	K562	blood:	n/a	chr12:83544930-83544942 chr12:83544647-83544662
19	GATA2	chr12:83544381-83545249	SH-SY5Y	brain:	n/a	n/a
20	PML	chr12:83544017-83545040	K562	blood:	n/a	n/a
21	TBL1XR1	chr12:83544263-83545075	K562	blood:	n/a	n/a
22	TAL1	chr12:83543885-83545096	K562	blood:	n/a	n/a
23	TEAD4	chr12:83544245-83545035	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:83544204..83547300-chr12:83565294..83568288,4	K562	blood:
2	chr12:83542565..83545008-chr12:83566532..83568731,2	K562	blood:
3	chr12:83531135..83533652-chr12:83540992..83544898,3	K562	blood:

No data

Variant related genes	Relation type
RPL6P25	TF binding region
ENSG00000258338	Chromatin interaction

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10746269	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778942	0.87[AMR][1000 genomes]
rs10778943	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778944	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778947	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862591	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862592	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862593	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115617	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115618	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115619	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1914518	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882437	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4882549	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309961	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974669	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv973097	chr12:83544133-83545969	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83543400-83545000	Enhancers	K562	blood
2	chr12:83543600-83548400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:83543800-83548200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:83544400-83545200	Enhancers	Hela-S3	cervix
5	chr12:83544600-83545200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:83544800-83545000	Enhancers	Right Atrium	heart
7	chr12:83544800-83547400	Enhancers	Cortex derived primary cultured neurospheres	brain

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