Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172207485..172209594-chr1:172210521..172213485,2	MCF-7	breast:
2	chr1:172192046..172193599-chr1:172210543..172213398,2	K562	blood:

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

rs_ID	r²[population]
rs10489288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376215	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844117	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844156	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844256	0.87[AMR][1000 genomes]
rs57725120	0.87[AMR][1000 genomes]
rs58338897	0.87[AMR][1000 genomes]
rs60732555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73030908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73030912	1.00[EUR][1000 genomes]
rs73030915	1.00[EUR][1000 genomes]
rs73030918	1.00[EUR][1000 genomes]
rs73030919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73030924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043093	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73044900	0.87[AMR][1000 genomes]
rs73046803	0.87[AMR][1000 genomes]
rs73046822	0.87[AMR][1000 genomes]
rs73046977	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046978	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000079	chr1:172146935-172230545	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv465650	chr1:172175115-172247127	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv548192	chr1:172175115-172247127	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv872546	chr1:172186321-172219995	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172207800-172212400	Weak transcription	Fetal Brain Female	brain
2	chr1:172208800-172227600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:172209400-172214400	Weak transcription	Pancreas	Pancrea
4	chr1:172209400-172218400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:172209400-172220800	Weak transcription	Right Ventricle	heart
6	chr1:172209600-172216200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:172209800-172230800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:172210200-172215400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:172211000-172213400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:172211200-172214400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:172211200-172215600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:172211400-172213800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:172211400-172220600	Weak transcription	Fetal Stomach	stomach

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