Variant report

Variant	rs58249373
Chromosome Location	chr6:114542678-114542679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs57019127	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58715608	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60070205	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60132574	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415761	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415762	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415763	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415767	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415769	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415770	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415771	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415773	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415774	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415810	1.00[ASN][1000 genomes]
rs62415834	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73536687	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536692	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73540383	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73540394	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742975	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745515	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752320	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7761798	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762243	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773081	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv1034897	chr6:114454186-114555679	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv34434	chr6:114465305-115462799	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1029370	chr6:114471446-114566884	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv464024	chr6:114489321-114837181	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv604544	chr6:114489321-114837181	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv3348649	chr6:114541059-114544057	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114518200-114546600	Weak transcription	HepG2	liver
2	chr6:114534400-114576000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:114538400-114549000	Weak transcription	Psoas Muscle	Psoas
4	chr6:114539000-114561200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:114540600-114543400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:114540800-114543800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:114540800-114544400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:114540800-114552400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:114540800-114561000	Weak transcription	HSMMtube	muscle
10	chr6:114541000-114544000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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