Variant report

Variant	rs11112201
Chromosome Location	chr12:105199038-105199039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10507189	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10778353	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861279	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861283	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10861284	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10861285	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10861289	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10861290	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112204	0.95[EUR][1000 genomes]
rs11112211	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112213	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112214	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11112216	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11112219	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11112222	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11112226	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112236	0.84[EUR][1000 genomes]
rs11112239	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112240	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112244	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112247	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112255	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11112262	0.80[EUR][1000 genomes]
rs12368247	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12368856	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12371663	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12372069	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2047128	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405400	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4603387	0.95[ASN][1000 genomes]
rs7303811	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9669285	1.00[ASN][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	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	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11112201	SLC41A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105187400-105213600	Weak transcription	Pancreas	Pancrea
2	chr12:105189800-105213400	Weak transcription	Aorta	Aorta
3	chr12:105190000-105202800	Weak transcription	Liver	Liver
4	chr12:105197600-105218400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:105198200-105199200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:105198400-105199600	Enhancers	HSMM	muscle
7	chr12:105198400-105199600	Enhancers	NH-A	brain
8	chr12:105198600-105199600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:105198800-105199200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:105198800-105199400	Enhancers	NHEK	skin
11	chr12:105198800-105199600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:105198800-105199600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:105198800-105199600	Enhancers	HMEC	breast
14	chr12:105199000-105199200	Enhancers	HSMMtube	muscle
15	chr12:105199000-105199400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:105199000-105199400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:105199000-105199400	Flanking Active TSS	Osteobl	bone
18	chr12:105199000-105199600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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