Variant report

Variant	rs2446449
Chromosome Location	chr8:67180727-67180728
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:31)

rs_ID	r²[population]
rs11775809	0.85[ASN][1000 genomes]
rs11776808	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11782521	0.86[EUR][1000 genomes]
rs11784744	0.96[EUR][1000 genomes]
rs2446442	0.85[ASN][1000 genomes]
rs2446443	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2446446	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2446447	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469256	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2469257	0.85[ASN][1000 genomes]
rs2469258	0.85[ASN][1000 genomes]
rs2469261	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2469265	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2469267	0.85[ASN][1000 genomes]
rs2469268	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2469270	0.83[ASN][1000 genomes]
rs2469272	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2469273	0.85[ASN][1000 genomes]
rs2469274	0.85[ASN][1000 genomes]
rs2469283	0.85[ASN][1000 genomes]
rs2469285	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469291	0.85[ASN][1000 genomes]
rs2469292	0.85[ASN][1000 genomes]
rs2469293	0.84[ASN][1000 genomes]
rs2469294	0.85[ASN][1000 genomes]
rs2469303	0.83[ASN][1000 genomes]
rs4737769	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs56026833	0.85[ASN][1000 genomes]
rs56054054	0.85[ASN][1000 genomes]
rs936430	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9792363	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr8:67172600-67186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67179800-67181600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:67179800-67182400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:67180400-67181400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:67180400-67181400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:67180400-67181400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:67180400-67182200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:67180600-67181000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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