Variant report

Variant	rs713073
Chromosome Location	chr1:209764090-209764091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209761488..209764424-chr1:209779291..209781957,2	K562	blood:
2	chr1:209763417..209764356-chr1:209866338..209866933,2	MCF-7	breast:
3	chr1:209763958..209764607-chr1:209920721..209921610,2	MCF-7	breast:
4	chr1:209754757..209756261-chr1:209761476..209764305,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008118	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119310	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119311	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2003682	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2076223	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2076224	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2356933	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4433397	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4556360	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6540544	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6683256	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs713074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736137	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7518521	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522730	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7528476	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533785	0.81[ASN][1000 genomes]
rs7538805	0.88[EUR][1000 genomes]
rs7541558	0.89[ASN][1000 genomes]
rs926386	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9429819	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs977441	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209760600-209776400	Weak transcription	Fetal Lung	lung
2	chr1:209761600-209765000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:209762600-209764200	Enhancers	Ovary	ovary
4	chr1:209762800-209764200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:209762800-209765000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:209762800-209765800	Weak transcription	Left Ventricle	heart
7	chr1:209763000-209765000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:209763600-209764200	Enhancers	Fetal Brain Male	brain
9	chr1:209763800-209764200	Enhancers	Brain Germinal Matrix	brain
10	chr1:209763800-209764400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:209763800-209764400	Weak transcription	Brain Anterior Caudate	brain
12	chr1:209764000-209764400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:209764000-209764600	Enhancers	Brain Cingulate Gyrus	brain

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