Variant report

Variant	rs706019
Chromosome Location	chr7:26968875-26968876
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	chr7:26966652..26968552-chr7:26968605..26970350,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10257464	0.84[CEU][hapmap]
rs10276952	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1082315	0.81[AFR][1000 genomes]
rs11977871	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12667139	0.96[ASN][1000 genomes]
rs12700771	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12700785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1560621	0.94[ASN][1000 genomes]
rs17426751	0.96[ASN][1000 genomes]
rs17426772	0.96[ASN][1000 genomes]
rs17427218	0.85[ASN][1000 genomes]
rs17436757	0.91[ASN][1000 genomes]
rs17436827	0.88[ASN][1000 genomes]
rs17437154	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs17448689	0.93[ASN][1000 genomes]
rs17448911	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs17471054	0.93[ASN][1000 genomes]
rs213515	0.85[CEU][hapmap]
rs213516	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2259141	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301719	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs2648079	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2693660	0.86[CEU][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2693661	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2693669	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712235	0.86[YRI][hapmap]
rs2936424	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936425	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591895	0.85[CEU][hapmap]
rs62446163	0.96[ASN][1000 genomes]
rs62446164	0.96[ASN][1000 genomes]
rs62448205	0.94[ASN][1000 genomes]
rs62454246	0.91[ASN][1000 genomes]
rs62454250	0.95[ASN][1000 genomes]
rs62457399	0.91[ASN][1000 genomes]
rs62457403	0.91[ASN][1000 genomes]
rs62457404	0.81[ASN][1000 genomes]
rs6948446	0.82[ASN][1000 genomes]
rs706015	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs774244	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs774245	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs774249	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs774250	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs774251	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs774253	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs774256	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs774263	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774265	0.92[CEU][hapmap]
rs774266	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791056	0.81[YRI][hapmap]
rs813501	0.95[ASN][1000 genomes]
rs954051	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs706019	HOTAIRM1	cis	Whole Blood	GTEx
rs706019	HOXA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26960400-26969600	Weak transcription	NHEK	skin
2	chr7:26968000-26971000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:26968200-26969000	Bivalent Enhancer	Fetal Lung	lung
4	chr7:26968200-26970800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:26968400-26969000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:26968400-26969200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:26968400-26970200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:26968600-26969000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:26968800-26969400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:26968800-26969800	Enhancers	HUES64 Cell Line	embryonic stem cell

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