Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:40442497..40444511-chr12:40489618..40491623,2	K562	blood:
2	12:40441273-40454218..12:40703633-40711447	GM12878	blood:
3	chr12:40433481..40436238-chr12:40442156..40444091,2	MCF-7	breast:
4	chr12:40442565..40445105-chr12:40454230..40455895,2	K562	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10454013	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10506141	0.94[EUR][1000 genomes]
rs10877929	0.95[EUR][1000 genomes]
rs11174735	0.94[EUR][1000 genomes]
rs11174998	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11175021	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11175027	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11175090	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11175094	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11175106	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11564215	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228213	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2101144	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2200085	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2200086	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2708445	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28370618	1.00[ASN][1000 genomes]
rs28370636	0.92[EUR][1000 genomes]
rs28370645	0.95[EUR][1000 genomes]
rs28370647	0.95[EUR][1000 genomes]
rs28370666	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4533099	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61931257	1.00[ASN][1000 genomes]
rs61931460	1.00[ASN][1000 genomes]
rs61933163	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7135815	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7302006	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7966741	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7967369	0.91[EUR][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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv558597	chr12:40414631-40442892	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv819704	chr12:40441985-40442875	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40405400-40445200	Weak transcription	K562	blood
3	chr12:40419000-40447600	Weak transcription	Hela-S3	cervix
4	chr12:40421600-40453400	Weak transcription	Left Ventricle	heart
5	chr12:40426400-40452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:40428000-40452600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:40439600-40444200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:40442200-40443400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:40442200-40447600	Weak transcription	A549	lung
10	chr12:40442200-40451400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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