Variant report

Variant	rs10039702
Chromosome Location	chr5:178325408-178325409
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178324334..178326418-chr5:178335750..178338330,2	K562	blood:

Variant related genes	Relation type
ENSG00000213328	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10035741	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10037614	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10039203	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10041805	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10043597	0.86[EUR][1000 genomes]
rs10059618	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10059708	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10068330	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10068408	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10074505	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10223205	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12657785	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1963050	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2411991	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61747996	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6874421	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6877197	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6896077	0.87[ASN][1000 genomes]
rs72814700	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72814702	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72816603	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72816608	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816609	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816613	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72816625	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72816629	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72816634	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10039702	ZNF454	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178323600-178325600	Weak transcription	Aorta	Aorta
2	chr5:178323600-178326000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:178323600-178327400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:178323600-178328000	Weak transcription	Fetal Lung	lung
5	chr5:178323600-178328200	Weak transcription	Gastric	stomach
6	chr5:178323600-178328600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:178323600-178331200	Weak transcription	Pancreas	Pancrea
8	chr5:178323600-178332800	Weak transcription	Left Ventricle	heart
9	chr5:178323600-178335400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:178323800-178325600	Weak transcription	Fetal Stomach	stomach
11	chr5:178323800-178325600	Weak transcription	Ovary	ovary
12	chr5:178323800-178325800	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:178323800-178328200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:178323800-178329000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:178323800-178329600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:178323800-178329800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:178323800-178331000	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:178323800-178332800	Weak transcription	Placenta	Placenta
19	chr5:178323800-178332800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:178323800-178333800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:178323800-178336200	Weak transcription	Right Ventricle	heart
22	chr5:178323800-178336400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:178324000-178327000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:178324000-178328000	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:178324000-178328200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:178324000-178328200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:178324000-178328400	Weak transcription	Brain Substantia Nigra	brain
28	chr5:178324000-178332800	Weak transcription	Brain Angular Gyrus	brain
29	chr5:178324000-178332800	Weak transcription	Brain Anterior Caudate	brain
30	chr5:178324400-178326200	Weak transcription	Fetal Brain Female	brain
31	chr5:178324400-178327600	Weak transcription	Brain Germinal Matrix	brain
32	chr5:178325200-178327000	Weak transcription	Fetal Brain Male	brain
33	chr5:178325400-178325800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:178325400-178326200	Enhancers	HepG2	liver
35	chr5:178325400-178326400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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