Variant report

Variant	rs12049943
Chromosome Location	chr12:60238092-60238093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10784007	0.81[AMR][1000 genomes]
rs10877352	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173169	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11173170	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11173171	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11173189	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173197	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173199	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11173200	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173201	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11173202	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12230605	0.82[AMR][1000 genomes]
rs12298637	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365314	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2365315	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35218918	0.84[EUR][1000 genomes]
rs35971116	0.83[EUR][1000 genomes]
rs4387384	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4412789	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4417320	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4539371	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4623939	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758741	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758846	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs56098460	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7296099	0.81[AMR][1000 genomes]
rs7975905	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12049943	SLC16A7	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60225400-60240000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:60234400-60238600	Weak transcription	HUVEC	blood vessel
3	chr12:60237400-60239600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:60237400-60240800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:60237600-60238200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:60237600-60239600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:60237600-60240600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:60237800-60239000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:60237800-60239200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:60237800-60240200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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