Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127288668..127290810-chr2:127412692..127415519,2	K562	blood:

Variant related genes	Relation type
ENSG00000136732	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10175150	0.82[ASN][1000 genomes]
rs10179912	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs10194561	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10203788	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1025789	0.82[ASN][1000 genomes]
rs11885234	0.82[ASN][1000 genomes]
rs13382980	0.86[AFR][1000 genomes]
rs13386710	0.86[AFR][1000 genomes]
rs13415629	0.81[AFR][1000 genomes]
rs13419397	0.86[AFR][1000 genomes]
rs13425593	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13425595	0.81[AFR][1000 genomes]
rs1440050	1.00[ASN][1000 genomes]
rs1550402	0.82[ASN][1000 genomes]
rs4577234	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56896312	0.86[AFR][1000 genomes]
rs6431080	0.86[AFR][1000 genomes]
rs6431081	0.86[AFR][1000 genomes]
rs6431097	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6727953	0.94[ASN][1000 genomes]
rs6728481	0.82[ASN][1000 genomes]
rs6753696	0.89[EUR][1000 genomes]
rs7590145	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7591893	1.00[ASN][1000 genomes]
rs7598155	0.93[EUR][1000 genomes]
rs7598599	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7599552	0.86[AFR][1000 genomes]
rs920438	0.82[ASN][1000 genomes]
rs958916	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs961447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001995	chr2:126506739-127314488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10182007	CYP27C1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127289000-127289600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:127289200-127289800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:127289200-127292800	Enhancers	Primary hematopoietic stem cells short term culture	blood

Quick Search: