Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26088715..26091033-chr12:26109828..26112264,2	MCF-7	breast:
2	chr12:26088641..26091375-chr12:26093087..26096585,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10842639	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167633	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1177523	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1182886	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11836294	0.85[GIH][hapmap]
rs12297557	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12308555	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16929807	0.85[GIH][hapmap]
rs2643932	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs706514	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs706515	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs706517	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs706540	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs706541	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7139410	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829822	0.88[EUR][1000 genomes]
rs829828	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829833	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs865505	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs995796	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1035319	chr12:26020667-26097148	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26095000	Weak transcription	NHDF-Ad	bronchial
3	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:26087800-26090000	Weak transcription	Fetal Lung	lung
5	chr12:26088600-26090200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:26088600-26090600	Enhancers	Brain Anterior Caudate	brain
7	chr12:26088600-26091200	Enhancers	Fetal Kidney	kidney
8	chr12:26088800-26090200	Enhancers	Brain Substantia Nigra	brain
9	chr12:26089000-26090800	Enhancers	Brain Cingulate Gyrus	brain
10	chr12:26089200-26090200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr12:26089200-26090200	Enhancers	Ovary	ovary
12	chr12:26089200-26090400	Enhancers	Brain Hippocampus Middle	brain
13	chr12:26089800-26090000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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