Variant report

Variant	rs4646583
Chromosome Location	chr15:58306551-58306552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF274	chr15:58306269-58306898	K562	blood:	n/a	n/a
2	POLR2A	chr15:58306188-58306574	K562	blood:	n/a	n/a
3	CEBPB	chr15:58306376-58306968	K562	blood:	n/a	n/a
4	NR2F2	chr15:58306195-58306638	K562	blood:	n/a	n/a
5	CEBPD	chr15:58306164-58306778	K562	blood:	n/a	n/a
6	TEAD4	chr15:58306097-58306739	K562	blood:	n/a	n/a
7	POLR2A	chr15:58306231-58306564	K562	blood:	n/a	n/a
8	TAL1	chr15:58306172-58306827	K562	blood:	n/a	chr15:58306490-58306498
9	RCOR1	chr15:58306084-58306635	K562	blood:	n/a	n/a
10	POLR2A	chr15:58306041-58307226	K562	blood:	n/a	n/a
11	EP300	chr15:58306150-58306820	K562	blood:	n/a	n/a
12	TBL1XR1	chr15:58306282-58306701	K562	blood:	n/a	n/a
13	MYC	chr15:58306178-58306637	K562	blood:	n/a	n/a
14	GATA2	chr15:58306223-58306637	K562	blood:	n/a	chr15:58306347-58306368
15	E2F4	chr15:58306517-58306703	MCF10A-Er-Src	breast:	n/a	n/a
16	CCNT2	chr15:58306250-58306686	K562	blood:	n/a	n/a
17	POLR2A	chr15:58306233-58306644	K562	blood:	n/a	n/a
18	PML	chr15:58306149-58306736	K562	blood:	n/a	n/a
19	PML	chr15:58306130-58306751	K562	blood:	n/a	n/a
20	ARID3A	chr15:58306293-58306755	K562	blood:	n/a	n/a
21	STAT5A	chr15:58306166-58306657	K562	blood:	n/a	chr15:58306639-58306647
22	GABPA	chr15:58306233-58306572	K562	blood:	n/a	n/a
23	ATF1	chr15:58306285-58306644	K562	blood:	n/a	n/a
24	NR2F2	chr15:58306071-58306738	K562	blood:	n/a	n/a
25	MAZ	chr15:58306383-58306559	K562	blood:	n/a	n/a
26	CEBPB	chr15:58306191-58306673	K562	blood:	n/a	n/a
27	ZMIZ1	chr15:58306259-58306633	K562	blood:	n/a	n/a
28	TEAD4	chr15:58305940-58306928	K562	blood:	n/a	n/a
29	GATA2	chr15:58306108-58306708	K562	blood:	n/a	chr15:58306347-58306368
30	JUND	chr15:58306301-58306668	K562	blood:	n/a	n/a
31	EGR1	chr15:58306239-58306569	K562	blood:	n/a	n/a
32	TRIM28	chr15:58306122-58306706	K562	blood:	n/a	n/a
33	TRIM28	chr15:58306228-58306579	K562	blood:	n/a	n/a
34	CEBPD	chr15:58306175-58306717	K562	blood:	n/a	n/a
35	EP300	chr15:58306333-58306590	K562	blood:	n/a	n/a
36	STAT5A	chr15:58306055-58306737	K562	blood:	n/a	chr15:58306639-58306647
37	CUX1	chr15:58306259-58306964	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58306217..58308259-chr15:58356597..58358737,2	K562	blood:

No data

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000259285	Chromatin interaction
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10518951	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1078777	0.89[EUR][1000 genomes]
rs1125360	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12591551	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12591715	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591835	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12592533	0.91[AMR][1000 genomes]
rs12592773	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12592810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12593050	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12593414	0.89[EUR][1000 genomes]
rs12594689	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12595264	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1372367	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16939707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16939727	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16939733	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16953355	0.85[EUR][1000 genomes]
rs16977858	0.91[EUR][1000 genomes]
rs16977861	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16977865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16977883	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1837850	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874157	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1874158	0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34062592	0.87[AFR][1000 genomes]
rs34165083	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35016264	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35056852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35385267	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35426268	0.87[AFR][1000 genomes]
rs35901995	0.87[AFR][1000 genomes]
rs35912910	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35926838	0.87[AFR][1000 genomes]
rs3825778	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4646561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4646565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4646574	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4646578	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646587	0.85[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646591	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4646601	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646608	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4646618	0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4646623	1.00[CHB][hapmap]
rs4646632	0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4646637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4646643	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.81[AMR][1000 genomes]
rs4646644	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs55723752	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55757800	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55866609	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56066922	0.89[EUR][1000 genomes]
rs56141372	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56183601	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56280454	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56404147	0.91[EUR][1000 genomes]
rs7161823	0.89[EUR][1000 genomes]
rs7178015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74017072	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74017096	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7495284	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8041300	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833023	chr15:58161839-58340174	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv569593	chr15:58201698-58308650	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv904261	chr15:58258424-58347260	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58298800-58308000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:58303000-58308200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:58305400-58307800	Weak transcription	Fetal Kidney	kidney
4	chr15:58306200-58306600	Transcr. at gene 5' and 3'	K562	blood
5	chr15:58306400-58306600	Bivalent Enhancer	Fetal Thymus	thymus

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