Variant report

Variant	rs16904123
Chromosome Location	chr8:130607775-130607776
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130603530..130605537-chr8:130607519..130610435,2	K562	blood:
2	chr8:130605721..130608302-chr8:130609684..130611618,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10094039	0.81[JPT][hapmap]
rs10103048	0.86[JPT][hapmap]
rs10107630	0.81[JPT][hapmap]
rs10956483	0.81[CHB][hapmap]
rs10956485	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs11785889	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12542190	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs12544501	0.83[ASN][1000 genomes]
rs12676406	0.99[ASN][1000 genomes]
rs12676428	0.98[ASN][1000 genomes]
rs12677963	0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap]
rs12681229	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs13277237	0.81[JPT][hapmap]
rs1368700	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1433577	0.91[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs1433580	0.95[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs1433585	0.87[CEU][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs1579555	0.81[ASN][1000 genomes]
rs1583333	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16904119	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs16904121	0.89[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16904126	0.87[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs16904129	0.80[CEU][hapmap]
rs1865223	0.81[JPT][hapmap]
rs1946627	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2163952	0.86[JPT][hapmap]
rs2395905	0.83[ASN][1000 genomes]
rs2395906	0.86[JPT][hapmap]
rs28500514	0.83[ASN][1000 genomes]
rs4407843	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4480083	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs55964818	0.83[ASN][1000 genomes]
rs6470742	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs6470743	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs6982553	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs6989110	0.81[ASN][1000 genomes]
rs7000230	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7000289	0.95[CHB][hapmap];0.84[CHD][hapmap];0.87[ASN][1000 genomes]
rs7000320	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs7000372	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7005227	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7008811	0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs7011870	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs7840067	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs7846327	0.91[CHB][hapmap]
rs996313	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16904123	PHF20L1	cis	cerebellum	SCAN
rs16904123	FAM49B	cis	cerebellum	SCAN
rs16904123	GSDMC	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130606400-130609200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr8:130607600-130608200	Weak transcription	Dnd41	blood

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