Variant report

Variant	rs17182014
Chromosome Location	chr8:63777086-63777087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10092338	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10102831	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10107381	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10282884	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10282893	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504356	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504359	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1480119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1600534	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16929879	0.99[EUR][1000 genomes]
rs17266243	0.89[EUR][1000 genomes]
rs17275944	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1904571	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2085251	0.99[EUR][1000 genomes]
rs2085253	0.99[EUR][1000 genomes]
rs28387373	0.95[EUR][1000 genomes]
rs28494990	0.99[EUR][1000 genomes]
rs28549153	0.85[EUR][1000 genomes]
rs28767608	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28825674	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28881312	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4636200	0.89[EUR][1000 genomes]
rs55641737	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55919907	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55933624	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56047308	0.85[EUR][1000 genomes]
rs56252369	0.89[EUR][1000 genomes]
rs56653385	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58210668	0.85[EUR][1000 genomes]
rs62508064	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62509402	0.83[EUR][1000 genomes]
rs62510765	0.89[EUR][1000 genomes]
rs62510766	0.85[EUR][1000 genomes]
rs62510767	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510768	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510770	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510775	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62510778	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510779	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510780	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510781	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510782	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510783	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510825	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510826	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510836	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999540	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72653293	0.86[EUR][1000 genomes]
rs72653295	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72653296	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72653299	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72655008	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72655038	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9785076	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv831341	chr8:63658694-63852213	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv890962	chr8:63708519-63812686	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv398476	chr8:63772081-63779449	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17182014	GGH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63776600-63777200	Active TSS	K562	blood
2	chr8:63776600-63777600	ZNF genes & repeats	Fetal Brain Female	brain
3	chr8:63776800-63777200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:63776800-63777200	Active TSS	Monocytes-CD14+_RO01746	blood
5	chr8:63776800-63777400	Enhancers	Placenta	Placenta

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