Variant report

Variant	rs732318
Chromosome Location	chr16:71479892-71479893
allele	A/G
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	SETDB1	chr16:71479476-71479911	U2OS	brain:	n/a	n/a
2	POLR2A	chr16:71479745-71480164	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:71479464-71480179	U87	brain:	n/a	n/a
4	POLR2A	chr16:71479458-71480311	U87	brain:	n/a	n/a
5	POLR2A	chr16:71479450-71480337	K562	blood:	n/a	n/a
6	POLR2A	chr16:71479718-71480277	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr16:71479519-71479977	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71478885..71480600-chr16:71492072..71493651,2	K562	blood:
2	chr16:71477364..71480165-chr16:71494025..71496473,2	K562	blood:
3	chr16:71477849..71480634-chr16:71486623..71488977,2	K562	blood:

Variant related genes	Relation type
ENSG00000262008	TF binding region
ENSG00000247324	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10500558	0.84[ASN][1000 genomes]
rs11640165	0.84[ASN][1000 genomes]
rs11641492	0.84[ASN][1000 genomes]
rs11643101	0.81[CHB][hapmap]
rs11643216	0.84[ASN][1000 genomes]
rs11644434	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs11647749	0.85[ASN][1000 genomes]
rs12446461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13331346	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1609868	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs1609869	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs16972708	0.82[YRI][hapmap]
rs2004672	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2070832	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288486	0.82[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.87[ASN][1000 genomes]
rs2288487	0.88[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2288488	0.87[ASN][1000 genomes]
rs2288489	0.91[YRI][hapmap]
rs2303788	0.88[CHB][hapmap];0.95[CHD][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs28372238	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs310334	0.87[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35373081	0.84[ASN][1000 genomes]
rs36063092	0.80[ASN][1000 genomes]
rs3813743	0.87[ASW][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3892120	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4149498	0.88[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs4503795	0.87[ASN][1000 genomes]
rs4620964	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58134724	0.88[ASN][1000 genomes]
rs58719913	0.84[ASN][1000 genomes]
rs6499523	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs7184543	0.88[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs7186241	0.85[ASN][1000 genomes]
rs7187165	0.88[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs7187354	0.83[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7188342	0.87[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7192986	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7199026	0.88[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs7199373	0.88[ASN][1000 genomes]
rs7200335	0.81[ASN][1000 genomes]
rs7200431	0.88[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs7202662	0.88[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs7202953	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs730470	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs74026831	0.85[ASN][1000 genomes]
rs74027246	0.84[ASN][1000 genomes]
rs8044068	0.84[ASN][1000 genomes]
rs8044561	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8051212	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053662	0.84[ASN][1000 genomes]
rs8058294	0.87[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs8058776	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8061078	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9302623	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9926110	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9928243	0.88[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs9933680	0.88[CHB][hapmap];0.92[CHD][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs9935426	0.88[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.89[ASN][1000 genomes]
rs9936249	0.87[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9940771	0.83[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71476800-71482000	Weak transcription	HepG2	liver
2	chr16:71478200-71482200	Weak transcription	Fetal Heart	heart
3	chr16:71478200-71487800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr16:71478400-71480600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:71478400-71481000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:71478600-71482000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:71479000-71482200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:71479400-71489200	ZNF genes & repeats	Liver	Liver
9	chr16:71479600-71487800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:71479600-71488000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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