Variant report

Variant	rs291427
Chromosome Location	chr2:191194059-191194060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191193601..191194113-chr2:191236875..191237773,2	MCF-7	breast:
2	chr2:191188679..191191658-chr2:191193316..191194937,2	K562	blood:
3	chr2:191193453..191196089-chr2:191197942..191200892,2	K562	blood:
4	chr2:191193161..191194231-chr2:191236816..191237872,5	MCF-7	breast:
5	chr2:191193232..191194216-chr2:191235295..191235985,2	MCF-7	breast:
6	chr2:191183187..191186051-chr2:191191939..191195673,3	K562	blood:
7	chr2:191192688..191195357-chr2:191197273..191199256,2	K562	blood:

Variant related genes	Relation type
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11683763	0.90[YRI][hapmap]
rs11695166	0.81[YRI][hapmap]
rs11888626	0.90[YRI][hapmap]
rs11894766	0.87[YRI][hapmap]
rs12693568	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13006833	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1366672	0.89[YRI][hapmap]
rs172366	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876877	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2136566	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2136569	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2271270	0.93[YRI][hapmap]
rs2303827	0.90[YRI][hapmap]
rs2353890	0.84[YRI][hapmap]
rs2582735	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2582736	1.00[CEU][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2582746	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2582766	0.90[AMR][1000 genomes]
rs2582770	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2664251	0.96[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2664252	1.00[CEU][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2664253	0.96[CEU][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2664259	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2664260	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664275	0.93[YRI][hapmap]
rs291402	0.84[YRI][hapmap]
rs291407	0.86[YRI][hapmap]
rs291423	0.81[YRI][hapmap]
rs291428	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs291431	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291444	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291445	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291447	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291448	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291449	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291453	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs291458	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291459	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291460	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291461	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291462	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291464	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs291466	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291468	0.96[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs291470	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291472	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2919677	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3749016	0.83[YRI][hapmap]
rs3791789	0.86[YRI][hapmap]
rs3828269	0.89[YRI][hapmap]
rs6434387	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6720060	0.90[YRI][hapmap]
rs6751588	0.90[YRI][hapmap]
rs6753459	0.83[YRI][hapmap]
rs7565423	0.81[YRI][hapmap]
rs7573689	0.83[YRI][hapmap]
rs7574028	0.84[YRI][hapmap]
rs906916	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs291427	HIBCH	cis	multi-tissue	Pritchard
rs291427	HIBCH	cis	lung	GTEx
rs291427	HIBCH	cis	Heart Left Ventricle	GTEx
rs291427	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs291427	HIBCH	cis	Muscle Skeletal	GTEx
rs291427	HIBCH	cis	Lymphoblastoid	GTEx
rs291427	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs291427	HIBCH	cis	Thyroid	GTEx
rs291427	HIBCH	cis	Stomach	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191186000-191194600	Weak transcription	K562	blood
2	chr2:191191600-191208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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