Variant report

Variant	rs2984598
Chromosome Location	chr1:168974452-168974453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168973185..168974998-chr1:168985373..168988197,2	MCF-7	breast:
2	chr1:168974158..168976803-chr1:168979071..168981181,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1033806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1322486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2025201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2065130	0.80[EUR][1000 genomes]
rs2065131	0.80[EUR][1000 genomes]
rs2104189	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2104190	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2146195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2146197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2146199	0.81[EUR][1000 genomes]
rs2146203	0.80[EUR][1000 genomes]
rs2208747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2419688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2984592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2984594	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3007375	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3007376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3007379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3007380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3007386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3007391	0.80[EUR][1000 genomes]
rs977988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv947332	chr1:168970371-168977238	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168972800-168974600	Enhancers	Brain Substantia Nigra	brain
2	chr1:168972800-168975400	Enhancers	Hela-S3	cervix
3	chr1:168972800-168976000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:168973000-168975800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:168973200-168974800	Enhancers	Brain Hippocampus Middle	brain
6	chr1:168973600-168975800	Enhancers	Brain Angular Gyrus	brain
7	chr1:168973600-168980200	Weak transcription	Left Ventricle	heart
8	chr1:168973600-168984000	Weak transcription	Aorta	Aorta
9	chr1:168973800-168975000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:168973800-168975000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:168973800-168979200	Weak transcription	HepG2	liver
12	chr1:168974400-168974600	Enhancers	Brain Anterior Caudate	brain

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