Variant report

Variant	rs828850
Chromosome Location	chr2:74352407-74352408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74347502..74349512-chr2:74350622..74354565,3	K562	blood:
2	chr2:74351961..74355354-chr2:74404780..74407747,5	K562	blood:
3	chr2:74350976..74353122-chr2:74373876..74376380,2	K562	blood:
4	chr2:74351961..74355354-chr2:74404780..74407747,4	K562	blood:

Variant related genes	Relation type
ENSG00000114978	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000163170	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1026150	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1095969	0.94[ASN][1000 genomes]
rs1095970	0.94[ASN][1000 genomes]
rs12996870	0.94[ASN][1000 genomes]
rs13025827	0.87[ASN][1000 genomes]
rs1667615	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1667616	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1667622	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1723283	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1723284	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1723290	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2421753	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3099822	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3099823	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108161	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108162	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34284832	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35955502	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6758220	0.87[ASN][1000 genomes]
rs702463	0.86[ASN][1000 genomes]
rs702464	0.86[ASN][1000 genomes]
rs828841	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828843	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828844	0.86[AFR][1000 genomes]
rs828845	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828846	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828847	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828848	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828864	0.86[ASN][1000 genomes]
rs828865	0.86[ASN][1000 genomes]
rs828897	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs828898	0.92[ASN][1000 genomes]
rs828901	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[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	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription 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 target site	20 gene(s)	inside rSNPs	diseases
2	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74348000-74357400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:74348200-74355000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:74348200-74360400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:74348200-74367600	Weak transcription	Brain Anterior Caudate	brain
5	chr2:74348600-74361800	Weak transcription	Hela-S3	cervix
6	chr2:74348800-74360400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:74350800-74360400	Weak transcription	Brain Substantia Nigra	brain
8	chr2:74351000-74353800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:74351200-74358400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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