Variant report

Variant	rs1386112
Chromosome Location	chr8:91917693-91917694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91909891..91912398-chr8:91917108..91919603,2	MCF-7	breast:
2	chr8:91907476..91910795-chr8:91916552..91920308,5	MCF-7	breast:
3	chr8:91794805..91797073-chr8:91915659..91918459,2	MCF-7	breast:
4	chr8:91765253..91769565-chr8:91914969..91917920,4	MCF-7	breast:
5	chr8:91912806..91916487-chr8:91917112..91920640,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1003996	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10086609	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs10108486	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs10108616	0.82[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs10112439	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes]
rs1011254	0.92[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055146	0.84[MEX][hapmap]
rs10956781	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs10956782	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs1125229	0.88[MEX][hapmap];0.82[TSI][hapmap]
rs1160329	0.88[MEX][hapmap]
rs12675931	0.92[CEU][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13261725	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13265644	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes]
rs13276591	0.87[CEU][hapmap]
rs1352159	0.84[MEX][hapmap]
rs1354519	0.82[GIH][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap]
rs1354520	0.82[GIH][hapmap];0.84[MEX][hapmap];0.80[TSI][hapmap]
rs1386107	0.82[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs1386111	0.81[ASN][1000 genomes]
rs1463920	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs1486465	0.94[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1504795	0.82[GIH][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap]
rs1542666	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1552397	0.88[MEX][hapmap]
rs16905444	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs16905571	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs2054805	0.89[CEU][hapmap];0.94[GIH][hapmap];0.92[TSI][hapmap]
rs2054806	0.84[MEX][hapmap]
rs2101378	0.88[MEX][hapmap]
rs2129260	0.88[MEX][hapmap];0.82[TSI][hapmap]
rs2129261	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2255173	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2339289	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2339291	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2631012	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631014	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631017	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2631024	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2631030	0.98[ASN][1000 genomes]
rs2631033	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2677573	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2677580	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2740776	0.81[EUR][1000 genomes]
rs2740782	0.81[ASN][1000 genomes]
rs2740788	0.84[MEX][hapmap]
rs2740791	0.87[MEX][hapmap]
rs2740795	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2740799	0.94[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35918434	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4448231	0.87[AMR][1000 genomes]
rs4634599	0.87[AMR][1000 genomes]
rs55735096	0.80[EUR][1000 genomes]
rs6471261	0.88[MEX][hapmap];0.82[TSI][hapmap]
rs6994971	0.90[GIH][hapmap];0.84[TSI][hapmap]
rs7005565	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs7018395	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7818155	0.89[CEU][hapmap]
rs7825360	0.87[AMR][1000 genomes]
rs7828122	0.89[CEU][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap]
rs7829663	0.83[MEX][hapmap]
rs7831333	0.84[MEX][hapmap]
rs997898	0.84[MEX][hapmap]
rs997899	0.88[MEX][hapmap]

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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1386112	TP53INP1	cis	cerebellum	SCAN
rs1386112	INTS8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91911600-91925800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:91911600-91926000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:91912600-91925200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:91916200-91918200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:91916400-91924000	Weak transcription	Fetal Lung	lung
6	chr8:91916400-91953000	Weak transcription	Aorta	Aorta
7	chr8:91917000-91918000	Enhancers	Liver	Liver
8	chr8:91917400-91918000	Enhancers	Adipose Nuclei	Adipose
9	chr8:91917400-91918000	Enhancers	Colon Smooth Muscle	Colon
10	chr8:91917400-91918200	Enhancers	Fetal Heart	heart

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