Variant report

Variant	rs7739294
Chromosome Location	chr6:117786542-117786543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117779599..117781620-chr6:117784627..117786769,2	K562	blood:
2	chr6:117785808..117787348-chr6:117789977..117791969,2	K562	blood:
3	chr6:117784575..117787348-chr6:117789977..117792089,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs13192067	0.80[ASN][1000 genomes]
rs13192130	0.80[ASN][1000 genomes]
rs13192511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13193572	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs13195478	0.93[JPT][hapmap]
rs13195673	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13196791	0.80[ASN][1000 genomes]
rs13198016	0.80[ASN][1000 genomes]
rs13202267	0.80[ASN][1000 genomes]
rs13202333	0.81[ASN][1000 genomes]
rs13202514	0.87[ASN][1000 genomes]
rs13205723	0.80[ASN][1000 genomes]
rs13205753	0.81[ASN][1000 genomes]
rs13205986	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs13206063	0.82[ASN][1000 genomes]
rs13207962	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs13208369	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13210963	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs13211956	0.83[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs13212002	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13217856	0.80[ASN][1000 genomes]
rs13218378	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1407181	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407182	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17079188	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17079281	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1853146	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1853147	0.98[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1885064	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2104064	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2273601	0.94[JPT][hapmap];0.81[YRI][hapmap]
rs34059490	0.82[ASN][1000 genomes]
rs34331459	0.80[ASN][1000 genomes]
rs35002781	0.80[ASN][1000 genomes]
rs35599105	0.80[ASN][1000 genomes]
rs36045731	0.82[ASN][1000 genomes]
rs3777980	0.94[JPT][hapmap]
rs3777982	0.94[JPT][hapmap]
rs4357172	0.80[ASN][1000 genomes]
rs4632931	0.80[ASN][1000 genomes]
rs4946254	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs62433102	0.80[ASN][1000 genomes]
rs6568977	0.80[ASN][1000 genomes]
rs6568978	0.80[ASN][1000 genomes]
rs6568979	0.80[ASN][1000 genomes]
rs6910338	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914910	0.80[ASN][1000 genomes]
rs6930292	0.80[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6936540	0.92[ASN][1000 genomes]
rs6940327	0.85[ASN][1000 genomes]
rs6941337	0.83[EUR][1000 genomes]
rs6941824	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942067	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717969	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717970	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs722359	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs7745840	0.80[ASN][1000 genomes]
rs7746536	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs7749229	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756187	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7763979	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs7764024	0.80[ASN][1000 genomes]
rs9481719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489152	0.82[JPT][hapmap]
rs9489155	0.83[AFR][1000 genomes]
rs9489157	0.82[AFR][1000 genomes]
rs9489166	0.86[AFR][1000 genomes]
rs9489173	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9489193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9489199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7739294	DCBLD1	cis	Whole Blood	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117785000-117786600	Enhancers	HMEC	breast
2	chr6:117785400-117790000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:117785600-117786600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:117785600-117786600	Enhancers	NH-A	brain
5	chr6:117785600-117786600	Enhancers	NHEK	skin
6	chr6:117785600-117786600	Enhancers	Osteobl	bone
7	chr6:117785600-117787000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:117786000-117787200	Enhancers	HUVEC	blood vessel
9	chr6:117786400-117787000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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