Variant report

Variant	rs12248483
Chromosome Location	chr10:21711861-21711862
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	chr10:21709922..21712770-chr10:21723710..21728356,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10047291	0.85[EUR][1000 genomes]
rs10047346	0.82[EUR][1000 genomes]
rs10082390	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10828243	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11012716	0.82[EUR][1000 genomes]
rs11012717	0.82[EUR][1000 genomes]
rs11594201	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11594724	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12098603	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12249704	0.84[EUR][1000 genomes]
rs12412917	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12776687	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16921815	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2360051	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34017213	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34449603	0.81[EUR][1000 genomes]
rs58747541	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6482181	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67206878	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7067553	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7070904	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7074328	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7080252	0.84[EUR][1000 genomes]
rs7087431	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7098776	0.82[EUR][1000 genomes]
rs7895825	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7899812	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7900593	0.91[ASN][1000 genomes]
rs7907233	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7922464	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959652	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9664320	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530148	chr10:21065080-21724565	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr10:21707200-21716600	Weak transcription	A549	lung
2	chr10:21707400-21713400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:21707400-21716800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr10:21708000-21712200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:21708400-21712800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:21708400-21714000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:21710400-21713400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:21710600-21712800	Weak transcription	NHDF-Ad	bronchial
9	chr10:21710600-21716600	Weak transcription	NHEK	skin
10	chr10:21711200-21713400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr10:21711200-21717600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:21711400-21712400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr10:21711400-21712600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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