Variant report

Variant	rs55890352
Chromosome Location	chr10:50339439-50339440
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50338793..50341624-chr10:50344391..50347108,2	K562	blood:
2	chr10:50338354..50340980-chr10:50380795..50383711,2	K562	blood:
3	chr10:50337758..50340130-chr10:50341015..50343464,2	K562	blood:
4	chr10:50338839..50340427-chr10:50376462..50378560,2	K562	blood:
5	chr10:50327680..50329332-chr10:50338988..50341061,2	K562	blood:
6	chr10:50339347..50342012-chr10:50362966..50365728,2	K562	blood:

Variant related genes	Relation type
ENSG00000172538	Chromatin interaction
ENSG00000234736	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11100995	0.96[ASN][1000 genomes]
rs11592541	0.95[EUR][1000 genomes]
rs11592975	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594275	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594452	0.96[ASN][1000 genomes]
rs11597087	0.88[EUR][1000 genomes]
rs11597983	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11598768	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12243520	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782866	1.00[ASN][1000 genomes]
rs1806681	0.86[ASN][1000 genomes]
rs2246796	0.90[ASN][1000 genomes]
rs2377981	0.96[ASN][1000 genomes]
rs2377982	0.96[ASN][1000 genomes]
rs2377983	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377984	0.96[ASN][1000 genomes]
rs3750744	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073200	0.96[ASN][1000 genomes]
rs4073201	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073202	0.96[ASN][1000 genomes]
rs41306832	0.96[ASN][1000 genomes]
rs4272720	0.90[ASN][1000 genomes]
rs4284329	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838455	0.96[ASN][1000 genomes]
rs4838458	0.96[ASN][1000 genomes]
rs4838464	0.86[ASN][1000 genomes]
rs55687538	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55783415	0.93[ASN][1000 genomes]
rs56364323	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56737365	0.96[ASN][1000 genomes]
rs57286767	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59728475	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61060205	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081097	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088006	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7094501	0.96[ASN][1000 genomes]
rs7097375	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73302715	0.96[ASN][1000 genomes]
rs73302716	0.96[ASN][1000 genomes]
rs73302780	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73302786	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73304754	0.92[EUR][1000 genomes]
rs7895212	0.93[ASN][1000 genomes]
rs7924204	0.96[EUR][1000 genomes];1.00[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50324000-50343600	Weak transcription	Right Atrium	heart
2	chr10:50336000-50344200	Enhancers	Fetal Muscle Leg	muscle
3	chr10:50336600-50341800	Weak transcription	Fetal Thymus	thymus
4	chr10:50338000-50340200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr10:50338600-50340400	Enhancers	Fetal Muscle Trunk	muscle
6	chr10:50339000-50339800	Enhancers	Fetal Lung	lung
7	chr10:50339200-50340000	Flanking Active TSS	HSMMtube	muscle
8	chr10:50339400-50339600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:50339400-50339600	Enhancers	Colonic Mucosa	Colon
10	chr10:50339400-50339600	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr10:50339400-50339600	Bivalent Enhancer	HSMM	muscle
12	chr10:50339400-50340000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:50339400-50340000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr10:50339400-50340000	Enhancers	Left Ventricle	heart
15	chr10:50339400-50340000	Enhancers	Ovary	ovary
16	chr10:50339400-50340000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr10:50339400-50340200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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