Variant report

Variant	rs8016729
Chromosome Location	chr14:70886331-70886332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr14:70886188-70886572	GM12892	blood:	n/a	n/a
2	SRF	chr14:70886270-70886601	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr14:70886324-70886503	H1-hESC	embryonic stem cell:	n/a	n/a
4	SRF	chr14:70886315-70886565	GM12878	blood:	n/a	n/a
5	YY1	chr14:70886276-70886565	GM12892	blood:	n/a	n/a
6	YY1	chr14:70885991-70886591	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr14:70886078-70886709	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr14:70886269-70886524	GM12891	blood:	n/a	n/a
9	SRF	chr14:70886216-70886565	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70884634..70887118-chr14:70904872..70907534,2	MCF-7	breast:

Variant related genes	Relation type
SYNJ2BP-COX16	TF binding region
SYNJ2BP	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10134376	1.00[YRI][hapmap]
rs10140161	1.00[YRI][hapmap]
rs10140916	1.00[YRI][hapmap]
rs10140938	1.00[YRI][hapmap]
rs10141034	1.00[YRI][hapmap]
rs10142875	1.00[YRI][hapmap]
rs10146573	1.00[YRI][hapmap]
rs10150618	1.00[YRI][hapmap]
rs10151236	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11158856	1.00[YRI][hapmap]
rs11621219	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12431557	1.00[YRI][hapmap]
rs12433437	1.00[YRI][hapmap]
rs12434063	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12588332	0.92[YRI][hapmap]
rs2095806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2275297	1.00[YRI][hapmap]
rs2275298	1.00[YRI][hapmap]
rs2332375	1.00[YRI][hapmap]
rs2332376	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2332383	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2332385	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2332386	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2332419	1.00[YRI][hapmap]
rs2332420	1.00[YRI][hapmap]
rs2877660	1.00[YRI][hapmap]
rs3784155	0.88[YRI][hapmap]
rs4600398	0.88[YRI][hapmap]
rs55865251	1.00[EUR][1000 genomes]
rs56698163	1.00[EUR][1000 genomes]
rs57082239	1.00[EUR][1000 genomes]
rs57486211	1.00[EUR][1000 genomes]
rs57957300	1.00[EUR][1000 genomes]
rs58669540	1.00[EUR][1000 genomes]
rs59242599	1.00[EUR][1000 genomes]
rs59853961	1.00[EUR][1000 genomes]
rs60598858	1.00[EUR][1000 genomes]
rs6420899	1.00[YRI][hapmap]
rs6573950	1.00[YRI][hapmap]
rs6573951	1.00[YRI][hapmap]
rs6573952	1.00[YRI][hapmap]
rs6573954	1.00[YRI][hapmap]
rs6573956	1.00[YRI][hapmap]
rs6573957	1.00[YRI][hapmap]
rs6573958	1.00[YRI][hapmap]
rs6573960	1.00[YRI][hapmap]
rs7144255	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7144371	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7145450	1.00[YRI][hapmap]
rs7148128	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7149261	0.92[YRI][hapmap]
rs7150558	1.00[YRI][hapmap]
rs7155162	1.00[YRI][hapmap]
rs7155332	1.00[YRI][hapmap]
rs7155763	1.00[YRI][hapmap]
rs7157399	0.90[YRI][hapmap]
rs7157430	1.00[YRI][hapmap]
rs7158117	1.00[YRI][hapmap]
rs7160707	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282125	1.00[EUR][1000 genomes]
rs73282130	1.00[EUR][1000 genomes]
rs73282131	1.00[EUR][1000 genomes]
rs73282190	1.00[EUR][1000 genomes]
rs73282196	1.00[EUR][1000 genomes]
rs73283923	1.00[EUR][1000 genomes]
rs73283934	1.00[EUR][1000 genomes]
rs73283937	1.00[EUR][1000 genomes]
rs73283977	1.00[EUR][1000 genomes]
rs73283980	1.00[EUR][1000 genomes]
rs73283997	1.00[EUR][1000 genomes]
rs8007103	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs8013510	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015825	0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017274	0.81[YRI][hapmap]
rs8020995	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9323537	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70884000-70889000	Weak transcription	Fetal Muscle Leg	muscle
2	chr14:70884400-70886400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:70884400-70888600	Weak transcription	HSMM	muscle
4	chr14:70885800-70887600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:70886000-70886800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:70886200-70886400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:70886200-70886800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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