Variant report

Variant	rs1907971
Chromosome Location	chr12:62627806-62627807
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	chr12:62623362..62628292-chr12:62651824..62654753,4	K562	blood:

Variant related genes	Relation type
ENSG00000198673	Chromatin interaction
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10784289	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10877807	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10877808	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10877809	0.91[JPT][hapmap]
rs10877810	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10877811	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10877812	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10877816	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs11174363	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11174365	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11174367	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174371	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174379	0.80[ASN][1000 genomes]
rs11174384	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs11174386	0.81[ASN][1000 genomes]
rs11174388	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs11174390	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs11174446	0.82[CEU][hapmap]
rs12227228	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs12312235	0.92[JPT][hapmap]
rs12319281	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12582117	0.88[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1320937	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279563	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2359736	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4280050	0.81[ASN][1000 genomes]
rs67753559	0.81[ASN][1000 genomes]
rs7137540	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7138634	0.81[ASN][1000 genomes]
rs7300029	0.80[ASN][1000 genomes]
rs7307385	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7312872	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7314903	0.90[JPT][hapmap]
rs73319546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1907971	NXPH4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62627800-62628400	Weak transcription	Gastric	stomach

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