Variant report

Variant	rs774267
Chromosome Location	chr7:26963514-26963515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26956940..26958702-chr7:26962220..26964835,2	K562	blood:
2	chr7:26957202..26958964-chr7:26963317..26964835,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10231265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10267442	0.80[ASN][1000 genomes]
rs1082313	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11975480	0.80[ASN][1000 genomes]
rs13311400	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2030137	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs213514	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs213520	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs213532	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2252947	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2264680	0.90[ASN][1000 genomes]
rs2428420	0.88[ASN][1000 genomes]
rs2428430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2462901	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[ASN][1000 genomes]
rs2462907	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2465263	0.91[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap]
rs2465265	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2465267	0.82[CEU][hapmap]
rs2522822	0.90[JPT][hapmap]
rs2522823	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[ASN][1000 genomes]
rs2522829	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[ASN][1000 genomes]
rs2693666	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[ASN][1000 genomes]
rs2712231	0.80[ASN][1000 genomes]
rs2712232	0.80[ASN][1000 genomes]
rs2712241	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2936426	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2960784	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2960785	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2960786	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3801806	0.85[CEU][hapmap]
rs3807592	0.82[CHB][hapmap]
rs607099	0.85[CEU][hapmap]
rs71521786	0.85[ASN][1000 genomes]
rs774245	0.86[AFR][1000 genomes]
rs774248	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs774254	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs774255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs774264	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774269	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs799237	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]

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	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv966766	chr7:26961781-26964055	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs774267	HOXA-AS2	cis	Whole Blood	GTEx
rs774267	HOTAIRM1	cis	Whole Blood	GTEx
rs774267	SKAP2	cis	Whole Blood	GTEx
rs774267	HOXA3	cis	Whole Blood	GTEx
rs774267	HOXA2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26960400-26969600	Weak transcription	NHEK	skin
2	chr7:26963400-26963600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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