Variant report

Variant	rs10948134
Chromosome Location	chr6:44324199-44324200
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44237431..44239577-chr6:44323185..44324985,2	K562	blood:
2	chr6:44320113..44321810-chr6:44322763..44325227,2	K562	blood:
3	chr6:44231038..44232613-chr6:44324108..44326590,2	K562	blood:

Variant related genes	Relation type
ENSG00000178233	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1122627	0.89[YRI][hapmap]
rs11755211	0.96[EUR][1000 genomes]
rs13214191	0.94[CEU][hapmap]
rs13220856	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411901	0.82[LWK][hapmap]
rs1411903	0.82[AFR][1000 genomes]
rs1571774	0.96[EUR][1000 genomes]
rs1609726	0.93[EUR][1000 genomes]
rs16871772	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1909887	0.94[ASW][hapmap];0.81[GIH][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes]
rs1971329	0.95[EUR][1000 genomes]
rs2065361	0.94[ASW][hapmap];0.81[GIH][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes]
rs2221224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396239	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4711780	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4714782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714783	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714784	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911823	0.89[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6935417	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7738562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760813	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7769100	0.94[ASW][hapmap];0.81[GIH][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs7772720	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs883193	0.89[CEU][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs883194	0.91[EUR][1000 genomes]
rs9349282	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9349283	0.83[CEU][hapmap]
rs9381313	0.93[EUR][1000 genomes]
rs9381315	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9472263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950230	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10948134	CDK5R1	trans	lymphoblastoid	seeQTL
rs10948134	MED20	cis	parietal	SCAN
rs10948134	RRP36	cis	cerebellum	SCAN
rs10948134	CD2AP	cis	cerebellum	SCAN
rs10948134	SLC25A27	cis	cerebellum	SCAN
rs10948134	PEX6	cis	cerebellum	SCAN
rs10948134	MRPL14	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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