Variant report

Variant	rs10505016
Chromosome Location	chr8:103018338-103018339
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	chr8:103017031..103018627-chr8:103042578..103044684,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10105250	0.81[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs1269713	0.86[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs1269714	0.86[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs1269715	0.86[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs1269716	0.86[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs1351063	0.81[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2187193	0.81[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs2226768	0.93[ASN][1000 genomes]
rs2387330	0.81[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2860153	0.81[CHB][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs4734051	1.00[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.85[LWK][hapmap];0.80[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs4734610	0.81[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4734611	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4734613	0.92[ASN][1000 genomes]
rs6468808	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6990972	0.81[EUR][1000 genomes]
rs7003289	1.00[ASW][hapmap]
rs7006931	0.92[ASN][1000 genomes]
rs7357558	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7820497	0.82[ASW][hapmap];0.84[YRI][hapmap]
rs7829974	0.81[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7833943	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10505016	GRHL2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103010200-103028400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:103010400-103022800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:103010400-103027200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:103010800-103018800	Weak transcription	Left Ventricle	heart
5	chr8:103010800-103028400	Weak transcription	Aorta	Aorta
6	chr8:103012600-103024600	Weak transcription	Ovary	ovary
7	chr8:103013000-103024200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:103017600-103024200	Weak transcription	Primary T cells from cord blood	blood

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