Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212318807..212321033-chr2:212328093..212330095,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10205509	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10221912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11885425	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11887436	1.00[EUR][1000 genomes]
rs11895530	1.00[EUR][1000 genomes]
rs13390068	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13392814	1.00[EUR][1000 genomes]
rs13423759	1.00[EUR][1000 genomes]
rs16846146	1.00[EUR][1000 genomes]
rs55633073	1.00[EUR][1000 genomes]
rs58121273	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61241208	1.00[EUR][1000 genomes]
rs6712900	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081798	1.00[EUR][1000 genomes]
rs73083806	1.00[EUR][1000 genomes]
rs73083814	1.00[EUR][1000 genomes]
rs73083815	1.00[EUR][1000 genomes]
rs73985404	1.00[EUR][1000 genomes]
rs73985405	1.00[EUR][1000 genomes]
rs7567117	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7586570	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1000722	chr2:212272622-212465143	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv875778	chr2:212297838-212360994	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv460066	chr2:212307077-212329416	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv584316	chr2:212307077-212329416	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv460067	chr2:212313400-212378242	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv584317	chr2:212313400-212378242	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212317800-212320400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:212319200-212320000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:212319200-212320400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:212319400-212320200	Enhancers	Brain Germinal Matrix	brain
5	chr2:212319400-212320400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:212319400-212320400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:212319600-212320000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:212319600-212320000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:212319600-212320000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:212319600-212320000	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr2:212319600-212320400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:212319600-212320400	Enhancers	Brain Substantia Nigra	brain
13	chr2:212319800-212320000	Active TSS	Brain Hippocampus Middle	brain
14	chr2:212319800-212320000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:212319800-212320200	Weak transcription	Fetal Lung	lung
16	chr2:212319800-212320400	Active TSS	Fetal Brain Male	brain
17	chr2:212319800-212322200	Weak transcription	Pancreas	Pancrea

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