Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr4:56250710-56254022	K562	blood:	n/a	chr4:56251408-56251418 chr4:56251410-56251420 chr4:56251410-56251417 chr4:56251405-56251421 chr4:56251410-56251417 chr4:56251410-56251417 chr4:56251407-56251419 chr4:56251646-56251653

No.	Distal block	Cell Line	Cell type
1	chr4:56246818..56249093-chr4:56250020..56252350,3	MCF-7	breast:
2	chr4:56209741..56214746-chr4:56246986..56251789,8	K562	blood:
3	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
4	chr4:56249230..56252021-chr4:56252928..56255914,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1011095	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11133376	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128141	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1522106	0.83[AMR][1000 genomes]
rs2412643	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28726308	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3736544	0.81[AMR][1000 genomes]
rs3805147	0.81[AMR][1000 genomes]
rs480479	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs501679	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs564762	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs576779	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6811520	0.80[AMR][1000 genomes]
rs6819649	0.84[EUR][1000 genomes]
rs6824955	0.80[AMR][1000 genomes]
rs6832769	0.80[AMR][1000 genomes]
rs6834676	0.80[AMR][1000 genomes]
rs7660054	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs819271	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9993675	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
2	chr4:56233200-56261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:56239800-56251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:56240400-56259600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:56246200-56251400	Weak transcription	Hela-S3	cervix
6	chr4:56248000-56254000	Weak transcription	Spleen	Spleen
7	chr4:56248000-56259400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:56248200-56251400	Weak transcription	Fetal Intestine Small	intestine
9	chr4:56248200-56261400	Weak transcription	Aorta	Aorta
10	chr4:56248400-56251400	Weak transcription	HepG2	liver
11	chr4:56248400-56251600	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:56248400-56251600	Weak transcription	Brain Substantia Nigra	brain
13	chr4:56249200-56261200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:56249400-56251400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:56250600-56251400	Enhancers	K562	blood
16	chr4:56250800-56251200	Weak transcription	Brain Angular Gyrus	brain
17	chr4:56251000-56252000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

Quick Search: