Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144238199..144241165-chr4:144253825..144255392,2	K562	blood:
2	chr4:144228357..144232212-chr4:144238301..144241767,5	K562	blood:

Variant related genes	Relation type
ENSG00000200049	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10155329	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs10598	0.85[AMR][1000 genomes]
rs17017745	1.00[CEU][hapmap]
rs2323011	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2661788	1.00[CEU][hapmap]
rs2666350	1.00[CEU][hapmap]
rs28989215	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28989221	0.89[EUR][1000 genomes]
rs28989224	0.89[EUR][1000 genomes]
rs28989225	0.89[EUR][1000 genomes]
rs28989230	0.89[EUR][1000 genomes]
rs62337486	1.00[EUR][1000 genomes]
rs62337489	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62337511	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62337512	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62337513	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62337514	0.93[EUR][1000 genomes]
rs62337515	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337516	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337517	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337518	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337519	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337524	0.89[EUR][1000 genomes]
rs62337525	0.89[EUR][1000 genomes]
rs62337526	0.89[EUR][1000 genomes]
rs62337527	0.89[EUR][1000 genomes]
rs62337528	0.89[EUR][1000 genomes]
rs62337529	0.89[EUR][1000 genomes]
rs62337530	0.89[EUR][1000 genomes]
rs62337531	0.89[EUR][1000 genomes]
rs62337532	0.89[EUR][1000 genomes]
rs6828635	1.00[AMR][1000 genomes];0.89[EUR][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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144235000-144247000	Weak transcription	Right Atrium	heart
2	chr4:144235600-144241000	Weak transcription	Left Ventricle	heart
3	chr4:144237400-144239000	Enhancers	Colon Smooth Muscle	Colon
4	chr4:144237400-144239000	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:144238000-144239000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:144238400-144239000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:144238600-144239000	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr4:144238800-144239000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:144238800-144239000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:144238800-144239000	Enhancers	Brain Substantia Nigra	brain
11	chr4:144238800-144240400	Weak transcription	Fetal Heart	heart
12	chr4:144239000-144240200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:144239000-144240200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:144239000-144240400	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:144239000-144241000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:144239000-144241200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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