Variant report

Variant	rs6499566
Chromosome Location	chr16:72238087-72238088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12447857	0.88[AFR][1000 genomes]
rs16970707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970725	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34417180	1.00[ASN][1000 genomes]
rs35549608	1.00[ASN][1000 genomes]
rs55771535	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58415520	0.83[AFR][1000 genomes]
rs60701149	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61452478	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7187517	0.81[AFR][1000 genomes]
rs9302635	1.00[ASN][1000 genomes]
rs9930957	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	nsv1059599	chr16:72219769-72342170	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6499566	HPR	cis	Whole Blood	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72229200-72240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:72233000-72240400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:72233200-72240000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr16:72236000-72240800	Weak transcription	Fetal Brain Male	brain
5	chr16:72236400-72238400	Enhancers	Primary B cells from peripheral blood	blood
6	chr16:72236600-72244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:72236800-72238400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:72237000-72238200	Enhancers	NHEK	skin
9	chr16:72237600-72238200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr16:72237600-72240000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr16:72237600-72242600	Weak transcription	Pancreas	Pancrea
12	chr16:72237800-72238200	Enhancers	HUVEC	blood vessel
13	chr16:72238000-72238200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:72238000-72238400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr16:72238000-72238400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr16:72238000-72238400	Enhancers	GM12878-XiMat	blood
17	chr16:72238000-72238800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr16:72238000-72240200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:72238000-72240400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:72238000-72243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:72238000-72251200	Weak transcription	Primary B cells from cord blood	blood

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