Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:209761488..209764424-chr1:209779291..209781957,2	K562	blood:
2	chr1:209757079..209759138-chr1:209762314..209763873,2	MCF-7	breast:
3	chr1:209754757..209756261-chr1:209761476..209764305,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008118	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11119313	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11801272	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12402938	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12408760	0.86[EUR][1000 genomes]
rs12734177	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235449	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235452	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235453	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235454	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235455	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34741019	0.82[EUR][1000 genomes]
rs35104617	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35458333	0.82[EUR][1000 genomes]
rs35498535	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35503098	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35508847	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35553417	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35856006	0.82[EUR][1000 genomes]
rs74157978	1.00[ASN][1000 genomes]
rs74157980	1.00[ASN][1000 genomes]
rs7517804	0.89[EUR][1000 genomes]
rs7517839	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7553120	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9787069	0.83[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209758200-209763200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:209759600-209763200	Weak transcription	HSMMtube	muscle
3	chr1:209759600-209763600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:209759800-209763200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:209759800-209763400	Enhancers	Hela-S3	cervix
6	chr1:209760000-209763600	Weak transcription	Fetal Brain Male	brain
7	chr1:209760200-209763800	Weak transcription	Brain Germinal Matrix	brain
8	chr1:209760600-209776400	Weak transcription	Fetal Lung	lung
9	chr1:209761600-209762800	Weak transcription	NH-A	brain
10	chr1:209761600-209765000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:209761800-209762800	Enhancers	Brain Angular Gyrus	brain
12	chr1:209762000-209762800	Enhancers	Left Ventricle	heart
13	chr1:209762200-209762800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:209762200-209762800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:209762200-209763200	Active TSS	Brain Anterior Caudate	brain
16	chr1:209762400-209763000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:209762400-209763600	Weak transcription	Spleen	Spleen
18	chr1:209762600-209763800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:209762600-209764200	Enhancers	Ovary	ovary

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