Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212229635..212231733-chr2:212236434..212239160,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10427172	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11888548	1.00[ASN][1000 genomes]
rs11901831	1.00[ASN][1000 genomes]
rs12619707	0.87[ASN][1000 genomes]
rs16845944	1.00[ASN][1000 genomes]
rs1821661	1.00[ASN][1000 genomes]
rs1836739	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34588906	0.89[ASN][1000 genomes]
rs56172792	1.00[ASN][1000 genomes]
rs58735954	1.00[ASN][1000 genomes]
rs59224996	0.93[ASN][1000 genomes]
rs60254210	1.00[ASN][1000 genomes]
rs66471203	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66600814	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67103742	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72947669	0.91[ASN][1000 genomes]
rs72947685	0.87[ASN][1000 genomes]
rs73083806	0.81[AFR][1000 genomes]
rs73083810	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73083812	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73083814	0.85[AFR][1000 genomes]
rs73083815	0.85[AFR][1000 genomes]
rs73985404	0.94[AFR][1000 genomes]
rs73985405	0.85[AFR][1000 genomes]
rs7571041	0.82[AFR][1000 genomes];1.00[ASN][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	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv875776	chr2:212196908-212264818	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212214200-212232000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:212225800-212232000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:212227200-212232400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:212229400-212231000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:212229400-212231000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:212229600-212231000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:212229800-212230600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:212229800-212231000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:212230200-212232400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:212230400-212232400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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