Variant report

Variant	rs7581322
Chromosome Location	chr2:11293336-11293337
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11273055..11275301-chr2:11293268..11296881,3	MCF-7	breast:
2	chr2:11292941..11297094-chr2:11480820..11486254,6	MCF-7	breast:
3	chr2:11292794..11295094-chr2:11339407..11341727,2	MCF-7	breast:
4	chr2:11292916..11295580-chr2:11604494..11607840,3	MCF-7	breast:
5	chr2:11284657..11286652-chr2:11293189..11295227,2	K562	blood:

Variant related genes	Relation type
ENSG00000169016	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10929723	0.84[ASN][1000 genomes]
rs10929724	0.83[ASN][1000 genomes]
rs11676692	0.96[ASN][1000 genomes]
rs11683786	0.91[CHB][hapmap]
rs11891302	0.80[ASN][1000 genomes]
rs11892387	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12470798	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12612929	0.84[ASN][1000 genomes]
rs12615623	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs12987119	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12994920	0.83[ASN][1000 genomes]
rs12995564	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs13000987	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs13022766	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs13027444	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13028675	0.87[ASN][1000 genomes]
rs13030385	0.87[ASN][1000 genomes]
rs13031027	0.87[ASN][1000 genomes]
rs17366322	0.81[ASN][1000 genomes]
rs1828930	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2037107	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs34315339	0.87[ASN][1000 genomes]
rs34333866	0.84[ASN][1000 genomes]
rs34344767	0.84[ASN][1000 genomes]
rs36026430	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668715	0.80[ASN][1000 genomes]
rs4668716	0.81[ASN][1000 genomes]
rs4669695	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs55975936	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6744659	0.84[ASN][1000 genomes]
rs6754718	0.84[ASN][1000 genomes]
rs6754745	0.84[ASN][1000 genomes]
rs71439048	0.84[ASN][1000 genomes]
rs727803	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7601782	0.83[ASN][1000 genomes]
rs7606827	0.96[AMR][1000 genomes];0.97[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	nsv520789	chr2:11259067-11312224	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7581322	PQLC3	cis	lung	GTEx
rs7581322	ROCK2	Cis_1M	lymphoblastoid	RTeQTL
rs7581322	PQLC3	cis	brain	BrainEAC
rs7581322	PQLC3	cis	Thyroid	GTEx
rs7581322	PQLC3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11273600-11294400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:11274000-11294600	Weak transcription	Right Atrium	heart
3	chr2:11284600-11294600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:11288000-11294200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:11288200-11294400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:11288200-11294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:11289600-11294600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:11289800-11294400	Weak transcription	Pancreas	Pancrea
9	chr2:11291200-11294200	Weak transcription	Hela-S3	cervix
10	chr2:11291600-11294400	Weak transcription	Adipose Nuclei	Adipose
11	chr2:11291800-11294800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:11292800-11294600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:11293200-11294200	Enhancers	Spleen	Spleen

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