Variant report

Variant	rs72785072
Chromosome Location	chr10:50338982-50338983
allele	C/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	chr10:50323173..50324677-chr10:50336521..50339264,2	K562	blood:
5	chr10:50338839..50340427-chr10:50376462..50378560,2	K562	blood:

Variant related genes	Relation type
ENSG00000172538	Chromatin interaction
ENSG00000165633	Chromatin interaction
ENSG00000234736	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10508911	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10857434	0.89[EUR][1000 genomes]
rs11100985	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11100994	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11814668	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11815070	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17011692	0.83[EUR][1000 genomes]
rs17011715	0.85[EUR][1000 genomes]
rs17011726	0.85[EUR][1000 genomes]
rs17011755	0.90[EUR][1000 genomes]
rs17011799	0.90[EUR][1000 genomes]
rs17773666	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17774010	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17774028	0.83[AMR][1000 genomes]
rs17774058	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs36116147	0.85[EUR][1000 genomes]
rs4264085	0.82[EUR][1000 genomes]
rs4272720	0.84[EUR][1000 genomes]
rs4453139	0.85[EUR][1000 genomes]
rs45563932	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55648711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55872223	0.90[EUR][1000 genomes]
rs55936311	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56027486	0.85[EUR][1000 genomes]
rs56081724	0.84[AMR][1000 genomes]
rs56157539	0.85[EUR][1000 genomes]
rs56197478	0.90[EUR][1000 genomes]
rs59889308	0.86[EUR][1000 genomes]
rs61166027	0.84[EUR][1000 genomes]
rs61848370	0.85[EUR][1000 genomes]
rs61848371	0.85[EUR][1000 genomes]
rs61848377	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61848380	0.87[EUR][1000 genomes]
rs61850682	0.82[EUR][1000 genomes]
rs61850684	0.83[EUR][1000 genomes]
rs61850689	0.85[EUR][1000 genomes]
rs61850690	0.85[EUR][1000 genomes]
rs61850693	0.85[EUR][1000 genomes]
rs7073558	0.83[AMR][1000 genomes]
rs7073561	0.83[AMR][1000 genomes]
rs72785044	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785050	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72785051	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72785060	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72785076	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72785084	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72785087	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72786903	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72789086	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72789089	0.84[AMR][1000 genomes]
rs72789095	0.83[AMR][1000 genomes]
rs72789097	0.83[AMR][1000 genomes]
rs7900761	0.83[AMR][1000 genomes]
rs7905715	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7919424	0.84[AMR][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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50324000-50343600	Weak transcription	Right Atrium	heart
2	chr10:50325000-50339400	Weak transcription	Ovary	ovary
3	chr10:50336000-50344200	Enhancers	Fetal Muscle Leg	muscle
4	chr10:50336600-50341800	Weak transcription	Fetal Thymus	thymus
5	chr10:50338000-50339400	Enhancers	Fetal Stomach	stomach
6	chr10:50338000-50340200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr10:50338400-50339200	Enhancers	HSMMtube	muscle
8	chr10:50338600-50339400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr10:50338600-50340400	Enhancers	Fetal Muscle Trunk	muscle

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