Variant report

Variant	rs62406378
Chromosome Location	chr6:49879935-49879936
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10948536	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12191923	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12195555	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12201007	0.85[AMR][1000 genomes]
rs12207683	0.83[EUR][1000 genomes]
rs1337819	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1547776	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17736662	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55727321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62404942	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62406371	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62406372	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62406373	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62406377	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv933833	chr6:49515134-49961765	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv462944	chr6:49869448-49948059	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv603091	chr6:49869448-49948059	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49874600-49881400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:49875200-49883800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:49875400-49881000	Weak transcription	Fetal Brain Male	brain
4	chr6:49877000-49883200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:49877400-49883400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:49877600-49883600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:49877800-49881400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:49877800-49882200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:49877800-49882200	Weak transcription	Fetal Lung	lung
10	chr6:49878000-49880200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:49878000-49881400	Weak transcription	Fetal Brain Female	brain
12	chr6:49879400-49880400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:49879400-49886400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:49879800-49880200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:49879800-49880800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:49879800-49881000	Weak transcription	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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