Variant report

Variant	rs2593138
Chromosome Location	chr10:55664601-55664602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:55658704..55661053-chr10:55661936..55664959,3	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10740557	0.97[EUR][1000 genomes]
rs10740558	0.99[EUR][1000 genomes]
rs10740559	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10763019	0.98[EUR][1000 genomes]
rs10763020	0.99[EUR][1000 genomes]
rs10763021	0.99[EUR][1000 genomes]
rs10763022	0.99[EUR][1000 genomes]
rs10763024	0.99[EUR][1000 genomes]
rs10763025	0.99[EUR][1000 genomes]
rs10763027	0.99[EUR][1000 genomes]
rs10763028	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10825155	0.99[EUR][1000 genomes]
rs10825156	0.99[EUR][1000 genomes]
rs10825157	0.99[EUR][1000 genomes]
rs10825159	0.98[EUR][1000 genomes]
rs10825161	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812585	1.00[ASN][1000 genomes]
rs17704703	1.00[ASN][1000 genomes]
rs1900421	0.89[EUR][1000 genomes]
rs1900422	0.88[EUR][1000 genomes]
rs1900423	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900449	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900450	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900451	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900458	0.89[EUR][1000 genomes]
rs1900459	0.89[EUR][1000 genomes]
rs2069216	0.84[EUR][1000 genomes]
rs2121525	0.89[EUR][1000 genomes]
rs2166620	0.89[EUR][1000 genomes]
rs2166621	0.89[EUR][1000 genomes]
rs2166628	0.87[EUR][1000 genomes]
rs2246768	0.92[EUR][1000 genomes]
rs2384327	0.87[EUR][1000 genomes]
rs2384332	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384333	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384334	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384343	0.89[EUR][1000 genomes]
rs2593103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593105	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593119	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593120	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593122	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593124	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593129	0.96[EUR][1000 genomes]
rs2593139	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593140	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2610823	0.96[EUR][1000 genomes]
rs2610857	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2610910	1.00[ASN][1000 genomes]
rs2610919	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921924	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926396	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926398	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926399	0.98[EUR][1000 genomes]
rs4427480	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858296	1.00[ASN][1000 genomes]
rs6481045	0.89[EUR][1000 genomes]
rs7071158	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7087311	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7089258	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7089762	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7095839	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7910658	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7912992	0.89[EUR][1000 genomes]
rs7915856	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842975	chr10:55378668-55736655	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv949692	chr10:55502542-55893206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv895429	chr10:55564355-55736655	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1049442	chr10:55638740-55681002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv895430	chr10:55645953-55736655	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1052939	chr10:55654719-55769239	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv550948	chr10:55662089-55714355	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv467213	chr10:55662089-55725234	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv550949	chr10:55662089-55725234	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv550950	chr10:55662156-55714355	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55663000-55665200	Enhancers	NHEK	skin
2	chr10:55664000-55665000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:55664200-55665400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:55664400-55664800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:55664400-55664800	Active TSS	HMEC	breast
6	chr10:55664400-55665000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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