Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175297716..175298626-chr12:45016548..45017262,2	MCF-7	breast:
2	chr1:175297682..175300567-chr1:175301302..175303620,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10489324	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12074601	1.00[EUR][1000 genomes]
rs2861278	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4650736	1.00[EUR][1000 genomes]
rs4650737	1.00[EUR][1000 genomes]
rs4650738	1.00[EUR][1000 genomes]
rs4651393	1.00[EUR][1000 genomes]
rs4651397	1.00[EUR][1000 genomes]
rs4651401	1.00[EUR][1000 genomes]
rs4651403	1.00[EUR][1000 genomes]
rs4651442	1.00[EUR][1000 genomes]
rs56884251	0.88[AFR][1000 genomes]
rs60264525	1.00[EUR][1000 genomes]
rs60781969	1.00[EUR][1000 genomes]
rs61553406	1.00[EUR][1000 genomes]
rs6685421	1.00[EUR][1000 genomes]
rs73032419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032426	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73032430	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032445	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034615	1.00[EUR][1000 genomes]
rs73036233	1.00[EUR][1000 genomes]
rs73036254	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73038926	1.00[EUR][1000 genomes]
rs73038929	1.00[EUR][1000 genomes]
rs73038933	1.00[EUR][1000 genomes]
rs73038939	1.00[EUR][1000 genomes]
rs73038947	1.00[EUR][1000 genomes]
rs73043562	0.88[AFR][1000 genomes]
rs73046091	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	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv831948	chr1:175229631-175407303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175283200-175320600	Weak transcription	Brain Germinal Matrix	brain
2	chr1:175284200-175343000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:175288800-175343200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:175288800-175343200	Weak transcription	Brain Substantia Nigra	brain
5	chr1:175289000-175305000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:175292000-175302800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:175295600-175299000	Weak transcription	Fetal Brain Male	brain
8	chr1:175295800-175304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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