Variant report

Variant	rs4944067
Chromosome Location	chr11:74778675-74778676
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74775986..74778736-chr11:74786345..74788649,2	K562	blood:
2	chr11:74776958..74778685-chr11:74780199..74782834,2	MCF-7	breast:
3	chr11:74775284..74777125-chr11:74778388..74781145,2	K562	blood:
4	chr11:74777918..74780984-chr11:74782589..74785289,3	K562	blood:
5	chr11:74777918..74781426-chr11:74782589..74786387,4	K562	blood:

Variant related genes	Relation type
ENSG00000234611	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10793111	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899062	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899063	0.91[ASN][1000 genomes]
rs10899066	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899075	0.85[JPT][hapmap]
rs11530865	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1944616	0.85[JPT][hapmap]
rs2712797	0.91[JPT][hapmap]
rs2712800	0.85[JPT][hapmap]
rs2712801	0.84[JPT][hapmap]
rs2712809	0.85[JPT][hapmap]
rs2712811	0.85[JPT][hapmap]
rs2851069	0.85[JPT][hapmap]
rs2851071	0.85[JPT][hapmap]
rs2851072	0.85[JPT][hapmap]
rs2851103	0.85[JPT][hapmap]
rs2851104	0.85[JPT][hapmap]
rs4245439	0.86[CHD][hapmap]
rs4335576	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4435030	0.85[JPT][hapmap]
rs4592443	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4594028	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944065	0.96[ASN][1000 genomes]
rs4944066	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs519741	0.82[MKK][hapmap]
rs599722	0.82[MKK][hapmap]
rs7110384	0.96[ASN][1000 genomes]
rs7110411	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7120240	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7121374	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937160	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs870505	0.85[JPT][hapmap]
rs870506	0.85[JPT][hapmap]
rs875482	0.85[JPT][hapmap]
rs9795216	0.83[AMR][1000 genomes]
rs997465	0.82[MKK][hapmap];0.84[TSI][hapmap]

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	nsv897918	chr11:74757641-74798928	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs4944067	XRRA1	cis	Whole Blood	GTEx
rs4944067	XRRA1	cis	Muscle Skeletal	GTEx
rs4944067	RNF169	cis	cerebellum	SCAN
rs4944067	XRRA1	cis	cerebellum	SCAN
rs4944067	RNF169	cis	lymphoblastoid	seeQTL
rs4944067	KRTAP5-10	cis	parietal	SCAN
rs4944067	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs4944067	CHRDL2	cis	cerebellum	SCAN
rs4944067	PLEKHB1	cis	cerebellum	SCAN
rs4944067	XRRA1	cis	Skin Sun Exposed Lower leg	GTEx
rs4944067	XRRA1	cis	lymphoblastoid	seeQTL
rs4944067	XRRA1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74773800-74782200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74777400-74780600	Weak transcription	K562	blood
3	chr11:74778200-74779200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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