Variant report

Variant	rs2544569
Chromosome Location	chr4:102882192-102882193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10212684	0.90[ASN][1000 genomes]
rs10212686	0.90[ASN][1000 genomes]
rs10516482	0.84[ASN][1000 genomes]
rs11097756	0.82[ASN][1000 genomes]
rs11734196	0.90[ASN][1000 genomes]
rs11737723	0.90[ASN][1000 genomes]
rs12331846	0.90[ASN][1000 genomes]
rs12641899	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12647710	0.84[ASN][1000 genomes]
rs12647741	0.90[ASN][1000 genomes]
rs12647829	0.90[ASN][1000 genomes]
rs17031724	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17031850	0.88[AFR][1000 genomes]
rs1862128	0.84[ASN][1000 genomes]
rs2631251	0.94[ASN][1000 genomes]
rs2851314	0.86[ASN][1000 genomes]
rs2851315	0.90[ASN][1000 genomes]
rs2851317	0.80[ASN][1000 genomes]
rs2851330	1.00[ASN][1000 genomes]
rs2851331	1.00[ASN][1000 genomes]
rs4317207	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4544711	0.84[ASN][1000 genomes]
rs4624656	0.88[ASN][1000 genomes]
rs6532981	0.81[ASN][1000 genomes]
rs6812110	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6812874	0.94[ASN][1000 genomes]
rs6849308	0.84[ASN][1000 genomes]
rs7663733	0.90[ASN][1000 genomes]
rs7666312	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	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv999861	chr4:102576115-102930562	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2757945	chr4:102662699-103008940	Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759269	chr4:102662699-103008940	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1011180	chr4:102685236-102985945	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537202	chr4:102685236-102985945	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2757074	chr4:102772861-102933949	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2752360	chr4:102790822-102888822	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv879682	chr4:102859835-103088491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2544569	HBG2	trans	brain	seeQTL
rs2544569	HBG1	trans	brain	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102869400-102889200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr4:102872200-102883400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:102873200-102883600	Strong transcription	Primary B cells from cord blood	blood
4	chr4:102875800-102882600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:102876400-102882200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:102876400-102883400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:102876800-102887800	Weak transcription	A549	lung
8	chr4:102878200-102882400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:102881600-102882200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:102882000-102883000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:102882000-102883400	Enhancers	Pancreatic Islets	Pancreatic Islet

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