Variant report

Variant	rs11693047
Chromosome Location	chr2:63680357-63680358
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10168545	0.81[EUR][1000 genomes]
rs10170988	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10171223	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10176522	0.82[AMR][1000 genomes]
rs1023820	0.80[EUR][1000 genomes]
rs10865337	0.86[AMR][1000 genomes]
rs10865338	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11898615	0.81[EUR][1000 genomes]
rs12713494	0.84[AMR][1000 genomes]
rs12713496	0.80[EUR][1000 genomes]
rs12990914	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1356390	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1446564	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1446565	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1867849	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2028887	0.80[EUR][1000 genomes]
rs2084200	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2166497	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2176415	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2292793	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3980466	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4255949	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4671065	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4671067	0.81[AMR][1000 genomes]
rs4671503	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4671505	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4671508	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4671509	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4671515	0.80[EUR][1000 genomes]
rs4671516	0.81[AMR][1000 genomes]
rs6546004	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6546005	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6546007	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6546009	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6546017	0.81[AMR][1000 genomes]
rs6732791	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6734648	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6736029	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6736411	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6738190	0.80[EUR][1000 genomes]
rs68183503	0.81[AMR][1000 genomes]
rs7563623	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7571017	0.81[AMR][1000 genomes]
rs7571325	0.81[AMR][1000 genomes]
rs7576316	0.81[EUR][1000 genomes]
rs7577952	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7584404	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7608470	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs959195	0.80[EUR][1000 genomes]
rs964903	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9789351	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs989527	0.84[AMR][1000 genomes];0.81[EUR][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	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63631800-63681200	Weak transcription	Aorta	Aorta
2	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
3	chr2:63662000-63698000	Weak transcription	Ovary	ovary
4	chr2:63662200-63681400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:63662800-63688000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:63666400-63688000	Weak transcription	Primary B cells from cord blood	blood
7	chr2:63666600-63726800	Weak transcription	Gastric	stomach
8	chr2:63667000-63680600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:63668200-63684800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:63673600-63697800	Weak transcription	Left Ventricle	heart
11	chr2:63674400-63693200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:63675800-63712000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:63677800-63680600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:63678000-63681400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:63680200-63683200	Weak transcription	Fetal Stomach	stomach

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