Variant report

Variant	rs2446435
Chromosome Location	chr8:67140618-67140619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11775809	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11784558	0.85[EUR][1000 genomes]
rs2446436	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2446437	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2446439	0.96[ASN][1000 genomes]
rs2446441	0.92[EUR][1000 genomes]
rs2446442	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2446444	0.85[EUR][1000 genomes]
rs2446445	0.82[EUR][1000 genomes]
rs2469254	0.91[EUR][1000 genomes]
rs2469256	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469257	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469258	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469259	0.85[EUR][1000 genomes]
rs2469260	0.85[EUR][1000 genomes]
rs2469262	0.83[EUR][1000 genomes]
rs2469263	0.83[EUR][1000 genomes]
rs2469267	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469269	0.85[EUR][1000 genomes]
rs2469270	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2469271	0.83[EUR][1000 genomes]
rs2469273	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469274	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469275	0.85[EUR][1000 genomes]
rs2469276	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2469277	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469283	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469284	0.85[EUR][1000 genomes]
rs2469285	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469286	0.84[EUR][1000 genomes]
rs2469287	0.83[EUR][1000 genomes]
rs2469291	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469292	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469293	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2469294	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469295	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2469296	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2469297	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2469298	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469299	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469301	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2469303	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3110302	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56026833	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56054054	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62511880	0.82[EUR][1000 genomes]
rs7816372	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs936430	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs954519	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs954520	0.84[AMR][1000 genomes];0.94[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	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
3	esv3343837	chr8:67137447-67168780	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3327342	chr8:67137447-67171527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67136600-67141200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:67140000-67140800	Enhancers	Lung	lung
3	chr8:67140000-67141800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:67140000-67141800	Enhancers	Placenta	Placenta
5	chr8:67140200-67141600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:67140200-67142000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:67140600-67140800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:67140600-67140800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:67140600-67141600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:67140600-67141600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:67140600-67141600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:67140600-67141600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:67140600-67141600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:67140600-67141600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:67140600-67141600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:67140600-67141600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:67140600-67141800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:67140600-67141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:67140600-67141800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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