Variant report

Variant	rs7302440
Chromosome Location	chr12:60359949-60359950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10082980	0.81[EUR][1000 genomes]
rs10083053	0.81[EUR][1000 genomes]
rs10747857	0.81[EUR][1000 genomes]
rs10784011	0.81[EUR][1000 genomes]
rs10784012	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10784017	0.94[ASN][1000 genomes]
rs10877366	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10877376	0.94[ASN][1000 genomes]
rs10877387	0.83[ASN][1000 genomes]
rs11173232	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11173234	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11173235	0.80[AMR][1000 genomes]
rs11173300	0.83[ASN][1000 genomes]
rs12231000	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12426916	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12578830	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35898855	0.84[ASN][1000 genomes]
rs4132660	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4326838	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4415809	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4469929	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4474476	0.86[EUR][1000 genomes]
rs4525272	0.87[ASN][1000 genomes]
rs4603345	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4630332	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4635120	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7301335	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73106135	0.81[ASN][1000 genomes]
rs73119606	0.83[EUR][1000 genomes]
rs73121599	0.90[ASN][1000 genomes]
rs7957469	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7960213	0.81[EUR][1000 genomes]
rs7961087	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7970962	0.98[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7971243	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv516042	chr12:60354307-60459370	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7302440	STAT2	cis	cerebellum	SCAN
rs7302440	DNAJC14	cis	cerebellum	SCAN
rs7302440	R3HDM2	cis	cerebellum	SCAN
rs7302440	OR6C75	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60358000-60360400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:60358400-60360200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:60358400-60360400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:60358600-60360400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:60359000-60360000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:60359000-60360000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:60359000-60360600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:60359800-60360400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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