Variant report

Variant	rs2808378
Chromosome Location	chr1:212063747-212063748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10863930	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10863932	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11119821	0.84[ASN][1000 genomes]
rs11119822	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2002081	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2788119	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2788120	0.93[ASN][1000 genomes]
rs2788123	0.80[EUR][1000 genomes]
rs2788126	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2788127	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2788132	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2788143	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2788147	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808379	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28865046	0.80[ASN][1000 genomes]
rs2970582	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2970587	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2998418	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951434	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6540712	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6685247	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7522107	0.81[ASN][1000 genomes]
rs7533928	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	esv2762218	chr1:212046447-212087682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212060000-212068600	Weak transcription	A549	lung
2	chr1:212061800-212064400	Weak transcription	Liver	Liver
3	chr1:212061800-212065600	Weak transcription	Adipose Nuclei	Adipose
4	chr1:212062000-212064000	Weak transcription	HepG2	liver
5	chr1:212063200-212064200	Weak transcription	Fetal Intestine Small	intestine
6	chr1:212063200-212065400	Weak transcription	Pancreas	Pancrea
7	chr1:212063200-212068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:212063200-212070200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:212063200-212070200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:212063200-212074600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:212063600-212064000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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