Variant report

Variant	rs10223205
Chromosome Location	chr5:178343081-178343082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178338284..178340822-chr5:178341370..178344365,2	K562	blood:

Variant related genes	Relation type
ENSG00000198939	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10035741	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10037614	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10039203	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10039702	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10041805	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10043597	0.85[EUR][1000 genomes]
rs10059618	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10059708	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10068330	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10068408	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10074505	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11739705	0.90[CHB][hapmap]
rs12520154	0.85[ASN][1000 genomes]
rs12657785	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1963050	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411991	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61747996	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6874421	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6877197	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72814700	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72814702	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72816603	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72816608	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72816609	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72816613	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72816625	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816629	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816634	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7725272	0.90[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10223205	ZNF354B	cis	cerebellum	SCAN
rs10223205	ZNF454	cis	Skin Sun Exposed Lower leg	GTEx
rs10223205	ZNF454	cis	parietal	SCAN
rs10223205	FAF2	cis	parietal	SCAN
rs10223205	OR2V2	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178335600-178349000	ZNF genes & repeats	Liver	Liver
2	chr5:178335800-178367000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr5:178340400-178344800	Weak transcription	Fetal Brain Male	brain
4	chr5:178340400-178345400	Weak transcription	Placenta	Placenta
5	chr5:178341600-178343400	ZNF genes & repeats	Psoas Muscle	Psoas
6	chr5:178341600-178343800	ZNF genes & repeats	Aorta	Aorta
7	chr5:178341600-178345800	ZNF genes & repeats	Fetal Lung	lung
8	chr5:178341600-178345800	ZNF genes & repeats	Ovary	ovary
9	chr5:178341600-178347000	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr5:178341600-178347200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
11	chr5:178341600-178367000	ZNF genes & repeats	Fetal Brain Female	brain
12	chr5:178341800-178343800	ZNF genes & repeats	Pancreas	Pancrea
13	chr5:178342000-178343600	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:178342000-178348200	Weak transcription	Right Ventricle	heart
15	chr5:178342200-178343200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:178342200-178345000	Weak transcription	Fetal Heart	heart
17	chr5:178342600-178343400	ZNF genes & repeats	Fetal Stomach	stomach
18	chr5:178342800-178343400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:178342800-178343400	ZNF genes & repeats	Lung	lung
20	chr5:178342800-178343800	ZNF genes & repeats	Brain Angular Gyrus	brain
21	chr5:178342800-178343800	Strong transcription	Brain Germinal Matrix	brain
22	chr5:178342800-178343800	ZNF genes & repeats	Left Ventricle	heart
23	chr5:178342800-178343800	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:178342800-178344000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr5:178342800-178346000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:178343000-178343400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr5:178343000-178343600	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr5:178343000-178343800	ZNF genes & repeats	Brain Anterior Caudate	brain
29	chr5:178343000-178344000	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr5:178343000-178346000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr5:178343000-178367200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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