Variant report

Variant	rs1517204
Chromosome Location	chr12:118060980-118060981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10444499	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735108	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735110	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10735111	0.87[EUR][1000 genomes]
rs10774940	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068589	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12826831	0.83[ASN][1000 genomes]
rs1400589	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1400593	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517196	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517201	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568154	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1568158	0.89[EUR][1000 genomes]
rs1568160	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1568161	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1850403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976755	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2090440	0.82[EUR][1000 genomes]
rs2138698	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2393240	0.89[EUR][1000 genomes]
rs2393250	0.87[EUR][1000 genomes]
rs2393251	0.85[EUR][1000 genomes]
rs2650169	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4553436	0.80[EUR][1000 genomes]
rs4570668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4767580	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4767581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767583	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4767586	0.92[EUR][1000 genomes]
rs4767587	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6490130	0.86[EUR][1000 genomes]
rs6490131	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490137	1.00[EUR][1000 genomes]
rs6490139	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490142	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs708861	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7298395	0.92[EUR][1000 genomes]
rs7305557	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7399212	0.84[EUR][1000 genomes]
rs7957425	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980301	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs816195	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs860113	0.85[EUR][1000 genomes];0.86[ASN][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	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1517204	SDSL	cis	parietal	SCAN
rs1517204	NIP30	trans	lymphoblastoid	RTeQTL
rs1517204	VSIG10	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118059600-118061000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:118059600-118061000	Enhancers	HUVEC	blood vessel
3	chr12:118059800-118061000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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