Variant report

Variant	rs646971
Chromosome Location	chr1:78696821-78696822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78695308..78697877-chr1:78720943..78723224,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11162433	0.93[CEU][hapmap]
rs11162435	0.87[ASN][1000 genomes]
rs11162436	0.87[ASN][1000 genomes]
rs1323097	0.87[ASN][1000 genomes]
rs1323099	0.89[ASN][1000 genomes]
rs1745624	0.83[ASW][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap];0.92[ASN][1000 genomes]
rs2181453	0.89[ASN][1000 genomes]
rs2351912	0.87[ASN][1000 genomes]
rs4650639	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs585677	0.82[ASN][1000 genomes]
rs589683	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591206	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs614836	0.86[CEU][hapmap];0.87[JPT][hapmap]
rs637650	0.92[ASN][1000 genomes]
rs648315	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs661630	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6665090	0.93[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[ASN][1000 genomes]
rs666897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs679843	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs681907	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs720579	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7540033	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs942100	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs646971	LHX8	cis	parietal	SCAN
rs646971	DNAJB4	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78689800-78697800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:78689800-78702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:78689800-78703000	Weak transcription	Pancreas	Pancrea
4	chr1:78694600-78699800	Weak transcription	Brain Germinal Matrix	brain
5	chr1:78695200-78697600	Weak transcription	Liver	Liver
6	chr1:78696600-78700400	Weak transcription	Lung	lung
7	chr1:78696800-78698600	Enhancers	Rectal Mucosa Donor 31	rectum

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