Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr4:100578498-100578564	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100483263..100486375-chr4:100577778..100581735,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13103481	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13120652	0.90[AMR][1000 genomes]
rs13120855	0.90[AMR][1000 genomes]
rs13146743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1491236	1.00[CEU][hapmap]
rs17029260	0.98[AFR][1000 genomes]
rs17029263	0.98[AFR][1000 genomes]
rs17029264	0.98[AFR][1000 genomes]
rs17029267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34098936	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34870956	0.94[AFR][1000 genomes]
rs34874297	0.96[AFR][1000 genomes]
rs35561084	0.91[AFR][1000 genomes]
rs35595171	0.91[AFR][1000 genomes]
rs6815796	0.90[AMR][1000 genomes]
rs6821960	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6825904	0.98[AFR][1000 genomes]
rs6830456	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6851824	0.96[AFR][1000 genomes]
rs71614608	0.90[AMR][1000 genomes]
rs71614611	0.90[AMR][1000 genomes]
rs7695727	0.98[AFR][1000 genomes]
rs7698525	0.90[AMR][1000 genomes];0.80[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	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100567800-100579200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:100575800-100579800	Weak transcription	Right Atrium	heart
3	chr4:100576000-100579400	Weak transcription	Psoas Muscle	Psoas
4	chr4:100576600-100578600	Enhancers	Fetal Muscle Leg	muscle
5	chr4:100576800-100579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:100577000-100579000	Active TSS	Right Ventricle	heart
7	chr4:100577000-100579400	Weak transcription	Brain Anterior Caudate	brain
8	chr4:100577000-100579800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:100577200-100578600	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:100577200-100578600	Active TSS	Left Ventricle	heart
11	chr4:100577200-100579400	Weak transcription	HSMMtube	muscle
12	chr4:100577200-100580200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:100577200-100580600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:100577400-100580800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr4:100578000-100579800	Enhancers	Hela-S3	cervix
16	chr4:100578000-100580400	Enhancers	Fetal Heart	heart
17	chr4:100578200-100578600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:100578200-100578800	Enhancers	Ovary	ovary
19	chr4:100578200-100579600	Enhancers	NHEK	skin
20	chr4:100578400-100578600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:100578400-100579600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:100578400-100579800	Enhancers	HMEC	breast

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