Variant report

Variant	rs950230
Chromosome Location	chr6:44313422-44313423
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44279978..44282464-chr6:44309513..44313447,3	K562	blood:
2	chr6:44213933..44216610-chr6:44311528..44314415,2	K562	blood:

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction
ENSG00000124608	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10948134	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]
rs1122627	0.89[YRI][hapmap]
rs11755211	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13214191	0.94[CEU][hapmap]
rs13220856	0.99[EUR][1000 genomes]
rs1571774	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1609726	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16871772	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1909887	0.94[ASW][hapmap];0.90[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs1971329	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065361	0.94[ASW][hapmap];0.90[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs2221224	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2396239	0.90[EUR][1000 genomes]
rs4711780	0.89[CEU][hapmap]
rs4714782	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4714783	0.89[CEU][hapmap];0.97[EUR][1000 genomes]
rs4714784	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];0.97[EUR][1000 genomes]
rs4714785	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6911823	0.89[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs6935417	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7738562	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7760813	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7769100	0.94[ASW][hapmap];0.90[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap]
rs7772720	0.89[CEU][hapmap];0.96[EUR][1000 genomes]
rs883193	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs883194	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9349282	0.96[EUR][1000 genomes]
rs9349283	0.83[CEU][hapmap]
rs9381313	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381315	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9472263	1.00[CEU][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.99[EUR][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	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs950230	SLC25A27	cis	cerebellum	SCAN
rs950230	PEX6	cis	cerebellum	SCAN
rs950230	CD2AP	cis	cerebellum	SCAN
rs950230	MRPL14	cis	parietal	SCAN
rs950230	RRP36	cis	cerebellum	SCAN
rs950230	SLC32A1	trans	lymphoblastoid	seeQTL
rs950230	MED20	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44310600-44317600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:44310800-44314400	Weak transcription	Pancreas	Pancrea

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