Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45035370..45037338-chr12:45042331..45044503,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10785518	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11182562	0.89[ASN][1000 genomes]
rs12302273	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1450540	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17094882	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1966856	0.82[AFR][1000 genomes]
rs2218943	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768067	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs586188	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs590905	0.83[ASN][1000 genomes]
rs625691	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs632893	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs633526	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs641782	0.83[ASN][1000 genomes]
rs655191	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs683285	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs686110	0.86[ASN][1000 genomes]
rs7299592	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7304431	0.87[AFR][1000 genomes]
rs765770	0.82[AFR][1000 genomes]
rs838975	0.88[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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45004800-45043200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:45005000-45044200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:45015000-45048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45023400-45055600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:45026000-45039400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:45031600-45059200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:45035000-45036600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:45035000-45041600	Weak transcription	Fetal Brain Male	brain
9	chr12:45035000-45041600	Weak transcription	Fetal Brain Female	brain
10	chr12:45035400-45036800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:45035400-45043200	Weak transcription	Fetal Stomach	stomach

Quick Search: