Variant report

Variant	rs72866719
Chromosome Location	chr2:37599227-37599228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1024813	0.96[ASN][1000 genomes]
rs1024816	0.93[ASN][1000 genomes]
rs11886606	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17020611	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2287094	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373001	0.95[ASN][1000 genomes]
rs2888464	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770742	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3770743	0.93[ASN][1000 genomes]
rs4670696	0.95[ASN][1000 genomes]
rs4670697	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6544069	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6708310	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7582749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587371	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7601156	0.90[AMR][1000 genomes];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

No data

Chromatin state (count:21 , 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	chr2:37595800-37599600	Weak transcription	Gastric	stomach
17	chr2:37598200-37601800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:37598600-37602800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:37598800-37603600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:37599200-37602400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:37599200-37603800	Weak transcription	Fetal Brain Male	brain

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