Variant report

Variant	rs16842321
Chromosome Location	chr1:224046104-224046105
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	POLR2A	chr1:224045818-224046574	K562	blood:	n/a	n/a
2	ZNF263	chr1:224045994-224046433	HEK293-T-REx	kidney:	n/a	chr1:224046246-224046255

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224030773..224035996-chr1:224045738..224052159,10	MCF-7	breast:

Variant related genes	Relation type
PHBP11	TF binding region
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1003061	0.89[ASN][1000 genomes]
rs1037952	0.84[EUR][1000 genomes]
rs1153927	0.93[ASN][1000 genomes]
rs1153929	0.90[ASN][1000 genomes]
rs1153930	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1153933	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1153934	0.90[ASN][1000 genomes]
rs1153936	0.85[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1153943	1.00[CEU][hapmap]
rs1153947	1.00[CEU][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1153949	0.87[ASN][1000 genomes]
rs1153971	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1153973	0.93[ASN][1000 genomes]
rs1222120	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1222121	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs1222124	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1222128	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1222146	0.87[ASN][1000 genomes]
rs1621129	0.84[ASN][1000 genomes]
rs1629850	1.00[CEU][hapmap];0.84[MKK][hapmap]
rs16842270	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16842294	1.00[CEU][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs1981171	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1982610	0.97[ASN][1000 genomes]
rs1982612	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1982613	0.97[ASN][1000 genomes]
rs2242188	0.91[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.87[MKK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs28370172	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3738370	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs3767709	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4653457	1.00[CEU][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs56329085	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs56918361	0.95[ASN][1000 genomes]
rs59104475	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59196624	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60131749	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60164080	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60596974	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs60739082	0.86[ASN][1000 genomes]
rs6604726	0.86[ASN][1000 genomes]
rs6661816	0.88[ASN][1000 genomes]
rs6675712	0.82[CEU][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6694214	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6703817	0.84[EUR][1000 genomes]
rs72749588	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72749591	0.92[EUR][1000 genomes]
rs72749597	0.90[EUR][1000 genomes]
rs72749599	0.90[EUR][1000 genomes]
rs737066	0.85[CEU][hapmap];0.86[MKK][hapmap]
rs7536779	0.95[ASN][1000 genomes]
rs898878	0.88[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	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv945311	chr1:224043754-224046221	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 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	chr1:224041800-224047000	Weak transcription	NHEK	skin
2	chr1:224041800-224047200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:224044800-224047800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:224044800-224051800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:224045800-224046400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:224046000-224046400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:224046000-224048600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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