Variant report

Variant	rs1914518
Chromosome Location	chr12:83544620-83544621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:83544446-83544865	K562	blood:	n/a	n/a
2	GATA2	chr12:83544419-83545000	K562	blood:	n/a	n/a
3	EP300	chr12:83544313-83545012	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	POLR2A	chr12:83544071-83544623	K562	blood:	n/a	n/a
7	RCOR1	chr12:83544248-83545013	K562	blood:	n/a	n/a
8	EP300	chr12:83544585-83545000	SK-N-SH_RA	brain:	n/a	n/a
9	CEBPB	chr12:83544479-83544860	Hela-S3	cervix:	n/a	n/a
10	ARID3A	chr12:83543919-83544914	K562	blood:	n/a	n/a
11	TEAD4	chr12:83544153-83545129	K562	blood:	n/a	n/a
12	CEBPD	chr12:83544205-83545050	K562	blood:	n/a	n/a
13	GATA3	chr12:83544511-83545039	SK-N-SH	brain:	n/a	n/a
14	PML	chr12:83544033-83544649	K562	blood:	n/a	n/a
15	CEBPB	chr12:83544426-83544965	K562	blood:	n/a	n/a
16	NR2F2	chr12:83544593-83545011	K562	blood:	n/a	n/a
17	POLR2A	chr12:83544053-83544627	K562	blood:	n/a	n/a
18	GATA3	chr12:83544521-83544956	SH-SY5Y	brain:	n/a	n/a
19	CEBPD	chr12:83544238-83545032	K562	blood:	n/a	n/a
20	STAT5A	chr12:83544309-83544951	K562	blood:	n/a	chr12:83544930-83544942 chr12:83544647-83544662
21	EP300	chr12:83544344-83544626	GM12878	blood:	n/a	n/a
22	GATA2	chr12:83544381-83545249	SH-SY5Y	brain:	n/a	n/a
23	GATA2	chr12:83544550-83544811	K562	blood:	n/a	n/a
24	PML	chr12:83544017-83545040	K562	blood:	n/a	n/a
25	CEBPB	chr12:83544488-83544736	K562	blood:	n/a	n/a
26	TBP	chr12:83544285-83544699	K562	blood:	n/a	n/a
27	TAF7	chr12:83544211-83544657	K562	blood:	n/a	n/a
28	TBL1XR1	chr12:83544263-83545075	K562	blood:	n/a	n/a
29	TAL1	chr12:83543885-83545096	K562	blood:	n/a	n/a
30	CCNT2	chr12:83544274-83544770	K562	blood:	n/a	n/a
31	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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10746269	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778942	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10778943	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778944	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778947	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862591	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862592	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862593	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115617	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115618	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115619	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517812	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4882549	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974669	0.87[AMR][1000 genomes];0.95[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	chr12:83540000-83544800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83543400-83545000	Enhancers	K562	blood
3	chr12:83543600-83548400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:83543800-83548200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:83544400-83544800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:83544400-83545200	Enhancers	Hela-S3	cervix
7	chr12:83544600-83545200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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