Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168733427..168735110-chr1:168744010..168746645,2	MCF-7	breast:
2	chr1:168745044..168747432-chr1:168750860..168753701,2	K562	blood:

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

rs_ID	r²[population]
rs10919012	1.00[EUR][1000 genomes]
rs12058057	1.00[EUR][1000 genomes]
rs12058379	1.00[EUR][1000 genomes]
rs12060178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061744	1.00[EUR][1000 genomes]
rs12063868	1.00[EUR][1000 genomes]
rs12064456	1.00[EUR][1000 genomes]
rs12072744	1.00[EUR][1000 genomes]
rs12078028	1.00[EUR][1000 genomes]
rs12079471	1.00[EUR][1000 genomes]
rs12082826	1.00[EUR][1000 genomes]
rs2064472	1.00[EUR][1000 genomes]
rs2206299	1.00[EUR][1000 genomes]
rs57257422	1.00[EUR][1000 genomes]
rs58149156	1.00[EUR][1000 genomes]
rs59796296	1.00[EUR][1000 genomes]
rs60014051	1.00[EUR][1000 genomes]
rs60151518	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60306829	1.00[EUR][1000 genomes]
rs60993038	1.00[EUR][1000 genomes]
rs61365006	1.00[EUR][1000 genomes]
rs6698984	1.00[EUR][1000 genomes]
rs73032097	1.00[EUR][1000 genomes]
rs73032100	1.00[EUR][1000 genomes]
rs73034203	1.00[EUR][1000 genomes]
rs73034209	1.00[EUR][1000 genomes]
rs73034218	1.00[EUR][1000 genomes]
rs73034224	1.00[EUR][1000 genomes]
rs73034238	1.00[EUR][1000 genomes]
rs73040271	1.00[EUR][1000 genomes]
rs73042062	1.00[EUR][1000 genomes]
rs7549645	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168738800-168745600	Weak transcription	Brain Germinal Matrix	brain
2	chr1:168743800-168746200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:168745200-168745600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:168745200-168745600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:168745200-168745600	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:168745200-168745800	Enhancers	Brain Hippocampus Middle	brain
7	chr1:168745200-168746000	Enhancers	Brain Substantia Nigra	brain
8	chr1:168745400-168745600	Enhancers	Left Ventricle	heart
9	chr1:168745400-168745600	Weak transcription	Rectal Smooth Muscle	rectum

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