Variant report

Variant	rs2287094
Chromosome Location	chr2:37599688-37599689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1024813	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1024816	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1105966	0.82[MEX][hapmap]
rs11886606	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17020611	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2373001	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs2888464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770742	0.93[ASN][1000 genomes]
rs3770743	0.93[ASN][1000 genomes]
rs4670696	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4670697	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6544069	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6708310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs72866719	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587371	0.96[ASN][1000 genomes]
rs7601156	0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2287094	QPCT	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37577400-37607000	Weak transcription	Spleen	Spleen
2	chr2:37578200-37605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:37578400-37604200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:37578600-37601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:37578800-37602200	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:37579800-37603000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:37580200-37603400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:37583600-37607200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:37589200-37602800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:37589800-37602800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:37593400-37602800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:37593600-37602400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:37594600-37602600	Weak transcription	Osteobl	bone
14	chr2:37594600-37602800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:37595000-37601800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:37598200-37601800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:37598600-37602800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:37598800-37603600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:37599200-37602400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:37599200-37603800	Weak transcription	Fetal Brain Male	brain

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