Variant report

Variant	rs1648291
Chromosome Location	chr15:45504986-45504987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr15:45504729-45505135	K562	blood:	n/a	n/a
2	TEAD4	chr15:45504491-45505168	K562	blood:	n/a	n/a
3	TBL1XR1	chr15:45504746-45504990	K562	blood:	n/a	n/a
4	RCOR1	chr15:45504713-45505083	K562	blood:	n/a	n/a
5	EGR1	chr15:45504696-45505031	K562	blood:	n/a	n/a
6	TEAD4	chr15:45504613-45505136	K562	blood:	n/a	n/a
7	ZMIZ1	chr15:45504792-45504995	K562	blood:	n/a	n/a
8	POLR2A	chr15:45504686-45505027	K562	blood:	n/a	n/a
9	BHLHE40	chr15:45504812-45505012	K562	blood:	n/a	n/a
10	EP300	chr15:45504702-45505016	K562	blood:	n/a	n/a
11	EGR1	chr15:45504712-45505011	K562	blood:	n/a	n/a
12	PML	chr15:45504595-45505097	K562	blood:	n/a	n/a
13	TAL1	chr15:45504659-45505086	K562	blood:	n/a	n/a
14	HDAC2	chr15:45504761-45504990	K562	blood:	n/a	n/a
15	STAT5A	chr15:45504707-45505049	K562	blood:	n/a	n/a
16	GATA2	chr15:45504631-45505089	K562	blood:	n/a	n/a
17	PML	chr15:45504682-45505107	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:45458183..45461229-chr15:45504288..45506472,3	K562	blood:
2	chr15:45492950..45494986-chr15:45503176..45505025,2	MCF-7	breast:
3	chr15:45458183..45460477-chr15:45504288..45505965,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259338	TF binding region
ENSG00000259539	Chromatin interaction
ENSG00000138606	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10450971	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12440127	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12898733	0.92[ASN][1000 genomes]
rs1611896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1617207	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1625404	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1625779	0.91[ASN][1000 genomes]
rs1628717	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1632144	0.91[ASN][1000 genomes]
rs1648280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1648284	0.92[ASN][1000 genomes]
rs1648288	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648290	0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[ASN][1000 genomes]
rs1648292	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1648296	0.92[ASN][1000 genomes]
rs1648297	0.83[ASN][1000 genomes]
rs1648298	1.00[ASW][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1648299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648300	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648301	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648314	0.87[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[ASN][1000 genomes]
rs1648315	0.90[ASN][1000 genomes]
rs1706765	0.94[JPT][hapmap]
rs1706779	1.00[JPT][hapmap]
rs1706819	0.87[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[ASN][1000 genomes]
rs1706823	0.85[ASW][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1706828	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1706833	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1706836	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2292468	0.83[JPT][hapmap]
rs2413777	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2458238	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2458240	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458241	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2467839	0.91[ASN][1000 genomes]
rs2668738	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2668750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899376	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs2899377	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4775824	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58701250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7167481	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs732622	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs938129	1.00[JPT][hapmap];0.86[MEX][hapmap]
rs938130	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv977712	chr15:45501081-45515127	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45493600-45508000	Weak transcription	Right Atrium	heart
2	chr15:45504600-45505200	Enhancers	Stomach Mucosa	stomach

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