Variant report

Variant	rs2851266
Chromosome Location	chr4:100028886-100028887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1133485	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1154405	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1154406	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1154407	0.81[EUR][1000 genomes]
rs1154410	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12506256	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1311615	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1311616	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1311617	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1311618	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1311619	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1377689	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1453872	0.81[EUR][1000 genomes]
rs1453873	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1453874	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1840228	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1840229	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1840230	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1840231	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1901922	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2034696	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602840	0.80[EUR][1000 genomes]
rs2602842	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602845	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602846	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602847	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602851	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602853	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602854	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602855	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602857	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602858	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602859	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602865	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2602866	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2602870	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2602872	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602873	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2602876	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2602877	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602878	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602881	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2602882	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602883	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2602888	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2602891	0.82[AMR][1000 genomes]
rs2851252	0.81[AMR][1000 genomes]
rs2851253	0.82[AMR][1000 genomes]
rs2851255	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2851256	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2851257	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2851260	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2851261	0.86[EUR][1000 genomes]
rs2851263	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851265	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2851267	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2851268	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851269	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851272	0.90[EUR][1000 genomes]
rs2851277	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851278	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851280	0.83[EUR][1000 genomes]
rs2851281	0.80[EUR][1000 genomes]
rs2851282	0.82[EUR][1000 genomes]
rs2851283	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2851286	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2924580	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2924586	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3018046	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3018047	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3018048	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3100630	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3133152	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3133153	0.83[EUR][1000 genomes]
rs4235436	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6532779	0.82[EUR][1000 genomes]
rs6822830	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6831225	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9761048	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1002574	chr4:100023999-100133693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3528915	chr4:100025155-100096234	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3528916	chr4:100025155-100096234	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv967774	chr4:100025816-100033849	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2851266	ADH5	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100012800-100063800	Weak transcription	Aorta	Aorta
2	chr4:100020600-100034800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:100020800-100032800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:100020800-100038600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:100021000-100032200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:100021000-100041200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:100023000-100055600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:100025800-100038400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:100028600-100029200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr4:100028800-100029400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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