Variant report

Variant	rs62364140
Chromosome Location	chr5:111629484-111629485
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	chr5:111629073..111631228-chr5:111635645..111639350,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13158768	0.86[EUR][1000 genomes]
rs13160791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13166322	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13171756	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13183224	0.86[EUR][1000 genomes]
rs13184442	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17134318	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17134331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17134343	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17134350	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34069146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34136685	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34489497	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34721765	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34947473	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35182061	0.91[EUR][1000 genomes]
rs35212577	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35368594	0.83[EUR][1000 genomes]
rs35445839	0.83[EUR][1000 genomes]
rs35538937	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35625614	0.86[EUR][1000 genomes]
rs35705963	0.86[EUR][1000 genomes]
rs35808967	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35843631	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35938930	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4485968	0.86[EUR][1000 genomes]
rs4957640	0.86[EUR][1000 genomes]
rs4957643	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4958023	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4958026	0.86[EUR][1000 genomes]
rs4958033	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62364081	0.83[EUR][1000 genomes]
rs62364135	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62364136	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62364138	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62364141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62364144	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62364145	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62365192	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62365194	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62365198	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62365250	0.80[EUR][1000 genomes]
rs6865000	0.86[EUR][1000 genomes]
rs7714295	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111627400-111630000	Weak transcription	Gastric	stomach
2	chr5:111628800-111631600	Enhancers	Fetal Heart	heart
3	chr5:111629200-111629600	Flanking Active TSS	Left Ventricle	heart
4	chr5:111629200-111629600	Flanking Active TSS	Right Ventricle	heart
5	chr5:111629200-111630200	Enhancers	Brain Hippocampus Middle	brain
6	chr5:111629400-111630000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:111629400-111630200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:111629400-111630600	Enhancers	Right Atrium	heart

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