Variant report

Variant	rs1011254
Chromosome Location	chr8:91907491-91907492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91899402..91901814-chr8:91904885..91907706,2	MCF-7	breast:
2	chr8:91900111..91903309-chr8:91904306..91908501,6	MCF-7	breast:
3	chr8:91704437..91707166-chr8:91906109..91908383,2	MCF-7	breast:
4	chr8:91907476..91910795-chr8:91916552..91920308,5	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1003996	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][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	0.94[CEU][hapmap];0.87[AMR][1000 genomes]
rs10108616	0.82[GIH][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs10112439	0.94[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]
rs1055146	0.84[MEX][hapmap]
rs10956781	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs10956782	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs1125229	0.87[MEX][hapmap];0.82[TSI][hapmap]
rs1160329	0.87[MEX][hapmap]
rs12675931	0.92[CEU][hapmap];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	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes]
rs13276591	0.81[CEU][hapmap]
rs1352159	0.84[MEX][hapmap]
rs1354519	0.82[GIH][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs1354520	0.82[GIH][hapmap];0.84[MEX][hapmap];0.80[TSI][hapmap]
rs1386107	0.82[GIH][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs1386111	0.81[ASN][1000 genomes]
rs1386112	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]
rs1463920	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs1486465	0.88[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];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs1542666	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1552397	0.87[MEX][hapmap]
rs16905444	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs16905571	0.85[EUR][1000 genomes]
rs2054805	0.83[CEU][hapmap];0.94[GIH][hapmap];0.92[TSI][hapmap]
rs2054806	0.83[MEX][hapmap]
rs2101378	0.87[MEX][hapmap]
rs2129260	0.87[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	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2339291	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2631012	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631014	0.94[CEU][hapmap];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	0.94[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	0.88[CEU][hapmap];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	0.87[MEX][hapmap];0.82[TSI][hapmap]
rs6994971	0.90[GIH][hapmap];0.84[TSI][hapmap]
rs7005565	0.94[CEU][hapmap];0.87[AMR][1000 genomes]
rs7018395	0.88[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	0.83[CEU][hapmap]
rs7825360	0.87[AMR][1000 genomes]
rs7828122	0.83[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	0.87[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
rs1011254	INTS8	cis	cerebellum	SCAN
rs1011254	TP53INP1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91890400-91907600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:91896000-91907600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:91896000-91907600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:91903200-91908000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:91903600-91912200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:91903600-91912200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:91906800-91907600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:91907200-91907800	Enhancers	Ovary	ovary
9	chr8:91907200-91908200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:91907400-91907600	Enhancers	Fetal Heart	heart
11	chr8:91907400-91908400	Enhancers	Cortex derived primary cultured neurospheres	brain

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