Variant report

Variant	rs12371663
Chromosome Location	chr12:105343011-105343012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10507189	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10778353	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10861279	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10861283	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861284	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861285	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10861298	0.87[ASN][1000 genomes]
rs11112201	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112204	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11112211	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112213	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112214	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112216	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112219	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112222	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112236	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112239	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112240	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112244	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112247	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112255	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112262	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112267	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112272	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11112273	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112278	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112280	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112281	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112282	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112288	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112289	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112290	0.81[AMR][1000 genomes]
rs11112298	0.81[AMR][1000 genomes]
rs11112300	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112301	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112302	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112305	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112312	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112317	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11519610	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11519721	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12368247	0.84[EUR][1000 genomes]
rs12368856	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12372030	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12372069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16891	0.81[AMR][1000 genomes]
rs2047128	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4405400	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7303811	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9943769	0.87[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12371663	SLC41A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105333200-105346200	Weak transcription	HepG2	liver
2	chr12:105338200-105344200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:105338200-105349000	Weak transcription	Pancreas	Pancrea
4	chr12:105338200-105351000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:105338400-105346600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:105342600-105350600	Weak transcription	Adipose Nuclei	Adipose
7	chr12:105342800-105344200	Weak transcription	Liver	Liver
8	chr12:105342800-105345200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:105342800-105345200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:105342800-105346000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:105342800-105346000	Weak transcription	Small Intestine	intestine
12	chr12:105343000-105343400	Weak transcription	Stomach Mucosa	stomach

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