Variant report

Variant	rs1486465
Chromosome Location	chr8:91894968-91894969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91701605..91703833-chr8:91894006..91896640,2	MCF-7	breast:
2	chr8:91783111..91784615-chr8:91894731..91896349,2	MCF-7	breast:
3	chr8:91656933..91659959-chr8:91892955..91896936,5	MCF-7	breast:
4	chr8:91791129..91792851-chr8:91894745..91897195,2	MCF-7	breast:
5	chr8:91888393..91905767-chr8:91919159..91931807,48	MCF-7	breast:
6	chr8:91655658..91658801-chr8:91893915..91897797,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246792	Chromatin interaction
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1003996	0.94[CEU][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap]
rs10086609	0.90[TSI][hapmap]
rs10108486	0.94[CEU][hapmap]
rs10108616	0.88[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs10112439	0.94[CEU][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap]
rs1011254	0.88[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1055146	0.84[MEX][hapmap]
rs10808631	0.85[EUR][1000 genomes]
rs10956781	0.90[TSI][hapmap]
rs10956782	0.90[TSI][hapmap]
rs10956784	0.80[EUR][1000 genomes]
rs10956785	0.83[EUR][1000 genomes]
rs1125229	0.88[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs1160329	0.88[MEX][hapmap]
rs12542103	0.80[EUR][1000 genomes]
rs12549909	0.83[EUR][1000 genomes]
rs12675931	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13261725	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13264873	0.83[EUR][1000 genomes]
rs13265644	0.93[CEU][hapmap]
rs13268798	0.84[EUR][1000 genomes]
rs13276591	0.81[CEU][hapmap]
rs13279759	0.84[EUR][1000 genomes]
rs1352159	0.84[MEX][hapmap]
rs1354517	0.85[EUR][1000 genomes]
rs1354518	0.84[EUR][1000 genomes]
rs1354519	0.88[MEX][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs1354520	0.84[MEX][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs1386107	0.88[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs1386108	0.83[EUR][1000 genomes]
rs1386109	0.80[EUR][1000 genomes]
rs1386112	0.94[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1463920	0.90[TSI][hapmap]
rs1486466	0.85[EUR][1000 genomes]
rs1504787	0.83[EUR][1000 genomes]
rs1504795	0.88[MEX][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs1504796	0.83[EUR][1000 genomes]
rs1542666	0.94[CEU][hapmap]
rs1552397	0.88[MEX][hapmap]
rs1604917	0.83[EUR][1000 genomes]
rs1604918	0.81[EUR][1000 genomes]
rs1604919	0.84[EUR][1000 genomes]
rs16905444	0.90[TSI][hapmap]
rs16905567	0.85[EUR][1000 genomes]
rs16905571	0.88[CEU][hapmap];0.96[EUR][1000 genomes]
rs1857752	0.84[EUR][1000 genomes]
rs1910726	0.83[EUR][1000 genomes]
rs1910727	0.83[EUR][1000 genomes]
rs1982785	0.85[EUR][1000 genomes]
rs1984428	0.88[EUR][1000 genomes]
rs2054805	0.83[CEU][hapmap];0.85[TSI][hapmap]
rs2054806	0.84[MEX][hapmap]
rs2101378	0.88[MEX][hapmap]
rs2129260	0.88[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs2339289	0.94[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs2339291	0.94[CEU][hapmap]
rs2631012	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2631014	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2631033	0.83[EUR][1000 genomes]
rs2677573	0.94[CEU][hapmap]
rs2740788	0.84[MEX][hapmap]
rs2740791	0.87[MEX][hapmap]
rs2740795	0.83[EUR][1000 genomes]
rs2740799	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs34480586	0.80[EUR][1000 genomes]
rs34637621	0.83[EUR][1000 genomes]
rs35234301	0.84[EUR][1000 genomes]
rs35918434	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3890611	0.83[EUR][1000 genomes]
rs4517081	0.84[EUR][1000 genomes]
rs4735417	0.83[EUR][1000 genomes]
rs4735418	0.84[EUR][1000 genomes]
rs4735419	0.83[EUR][1000 genomes]
rs4735428	0.85[EUR][1000 genomes]
rs6471257	0.80[EUR][1000 genomes]
rs6471258	0.80[EUR][1000 genomes]
rs6471259	0.83[EUR][1000 genomes]
rs6471260	0.80[EUR][1000 genomes]
rs6471261	0.88[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs6471262	0.85[EUR][1000 genomes]
rs6986276	0.84[EUR][1000 genomes]
rs6994971	0.89[TSI][hapmap]
rs6999838	0.85[EUR][1000 genomes]
rs7005565	0.94[CEU][hapmap]
rs7014480	0.82[EUR][1000 genomes]
rs7018395	0.87[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs7813402	0.85[EUR][1000 genomes]
rs7818155	0.83[CEU][hapmap]
rs7821107	0.82[EUR][1000 genomes]
rs7828122	0.83[CEU][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]
rs7829663	0.83[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs7830264	0.82[EUR][1000 genomes]
rs7831333	0.84[MEX][hapmap]
rs901382	0.85[EUR][1000 genomes]
rs937738	0.80[EUR][1000 genomes]
rs937739	0.83[EUR][1000 genomes]
rs9643317	0.82[EUR][1000 genomes]
rs9969519	0.80[EUR][1000 genomes]
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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1486465	INTS8	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91876800-91901000	Weak transcription	Aorta	Aorta
2	chr8:91888400-91895800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:91890400-91907600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:91890600-91895400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:91890600-91902800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:91890800-91895600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:91890800-91895600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:91892000-91895600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:91892600-91895600	Weak transcription	Brain Angular Gyrus	brain
10	chr8:91893800-91897800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:91894600-91895400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:91894800-91895000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:91894800-91895000	Enhancers	Brain Hippocampus Middle	brain
14	chr8:91894800-91896600	Enhancers	NHDF-Ad	bronchial

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