Variant report

Variant	rs7203475
Chromosome Location	chr16:48494149-48494150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48486870..48489852-chr16:48492927..48494661,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1004704	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11076569	0.80[ASN][1000 genomes]
rs11643514	0.88[ASN][1000 genomes]
rs11644887	0.92[ASN][1000 genomes]
rs11648225	0.82[ASN][1000 genomes]
rs11865776	0.91[ASN][1000 genomes]
rs1566466	0.88[ASN][1000 genomes]
rs1566467	0.88[ASN][1000 genomes]
rs2062553	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2062554	1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2088753	0.88[ASN][1000 genomes]
rs2088754	0.88[ASN][1000 genomes]
rs4785244	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4785520	0.88[ASN][1000 genomes]
rs4785521	0.80[ASN][1000 genomes]
rs55745119	0.85[ASN][1000 genomes]
rs56207849	0.98[ASN][1000 genomes]
rs7184700	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7194822	0.83[ASN][1000 genomes]
rs7198215	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7198420	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7206781	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs8046716	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs8052026	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs8054696	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8056201	0.82[ASN][1000 genomes]
rs8056346	0.82[ASN][1000 genomes]
rs8063059	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs9888862	0.91[ASN][1000 genomes]
rs9889065	0.91[ASN][1000 genomes]
rs9889067	0.91[ASN][1000 genomes]
rs9921402	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs9923092	0.88[ASN][1000 genomes]
rs9926683	0.88[ASN][1000 genomes]
rs9933892	0.82[ASN][1000 genomes]
rs9939368	0.85[ASN][1000 genomes]
rs9940599	0.88[ASN][1000 genomes]
rs9941289	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48488200-48495400	Enhancers	Primary B cells from peripheral blood	blood
2	chr16:48493000-48495600	Weak transcription	Hela-S3	cervix
3	chr16:48493200-48495400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:48493200-48496000	Weak transcription	A549	lung
5	chr16:48493400-48495200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:48493400-48495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:48493400-48495600	Weak transcription	HMEC	breast
8	chr16:48493400-48496200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:48493800-48495200	Weak transcription	NHEK	skin

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