Variant report

Variant	rs62018051
Chromosome Location	chr15:40819607-40819608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40818208..40820225-chr15:40824846..40826770,2	K562	blood:
2	chr15:40802752..40805307-chr15:40819242..40820883,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPUSD2-2	chr15:40817905-40821053	ucscGeneNc_uc001zqm_2

Extended variants
information (count: 52 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10851396	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11070279	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11070280	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11852479	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11852527	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11857247	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12899408	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12907448	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12907984	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12908114	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12908867	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12914501	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12915563	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12916323	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1453183	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17746659	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17747399	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1901774	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2123534	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412524	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3213999	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34303240	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34750756	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35030447	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35884042	0.83[AMR][1000 genomes]
rs36122190	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3743146	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3803353	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4457966	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55954396	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56384845	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61048252	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62018030	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62018046	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62018048	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62019866	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62019883	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7162749	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7164385	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7165054	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7181909	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72733469	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731640	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs733299	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8025458	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8028910	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8036938	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8042733	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9806410	0.85[EUR][1000 genomes]
rs999197	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs62018051	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs62018051	C15orf57	cis	Esophagus Muscularis	GTEx
rs62018051	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs62018051	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs62018051	C15orf57	cis	Adipose Subcutaneous	GTEx
rs62018051	C15orf57	cis	Nerve Tibial	GTEx
rs62018051	RP11-111A22.1	cis	Artery Tibial	GTEx
rs62018051	RP11-111A22.1	cis	Esophagus Muscularis	GTEx
rs62018051	RP11-111A22.1	cis	lung	GTEx
rs62018051	C15orf57	cis	lung	GTEx
rs62018051	C15orf57	cis	Artery Tibial	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40804400-40821000	Weak transcription	Right Atrium	heart
2	chr15:40805200-40828200	Weak transcription	Placenta	Placenta
3	chr15:40805200-40833000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:40812400-40820200	Weak transcription	Fetal Stomach	stomach
5	chr15:40812400-40828600	Weak transcription	Primary T cells from cord blood	blood
6	chr15:40812400-40828600	Weak transcription	Right Ventricle	heart
7	chr15:40812400-40828800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:40812400-40828800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:40812400-40829000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:40812400-40829000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:40812400-40831000	Weak transcription	Thymus	Thymus
12	chr15:40812400-40837800	Weak transcription	Lung	lung
13	chr15:40812600-40826000	Weak transcription	Adipose Nuclei	Adipose
14	chr15:40812600-40826400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr15:40812600-40827000	Weak transcription	Spleen	Spleen
16	chr15:40812600-40831400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:40812600-40840600	Weak transcription	Hela-S3	cervix
18	chr15:40816200-40820600	Weak transcription	Fetal Intestine Small	intestine
19	chr15:40816600-40826200	Weak transcription	GM12878-XiMat	blood
20	chr15:40816800-40835000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:40816800-40845600	Weak transcription	Ovary	ovary
22	chr15:40817800-40821800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr15:40818200-40828000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:40818400-40820600	Weak transcription	K562	blood
25	chr15:40818400-40828200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:40819200-40831200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:40819400-40828000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:40819400-40830200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:40819400-40831200	Weak transcription	Gastric	stomach
30	chr15:40819600-40845000	Weak transcription	Pancreas	Pancrea

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