Variant report

Variant	rs1870270
Chromosome Location	chr5:95367082-95367083
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95360554..95363561-chr5:95366063..95368612,3	K562	blood:
2	chr5:95363683..95365395-chr5:95366901..95369484,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10056771	0.81[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap]
rs10059754	0.80[EUR][1000 genomes]
rs10079268	0.82[EUR][1000 genomes]
rs10085034	0.81[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap]
rs1021505	0.82[EUR][1000 genomes]
rs11951463	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.92[EUR][1000 genomes]
rs13155375	0.81[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap]
rs13172783	0.81[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap]
rs1389827	0.96[EUR][1000 genomes]
rs4128178	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs4270717	0.86[EUR][1000 genomes]
rs4416625	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs4479864	0.88[EUR][1000 genomes]
rs4869256	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4869258	0.90[EUR][1000 genomes]
rs4998057	0.90[EUR][1000 genomes]
rs6556899	0.90[EUR][1000 genomes]
rs66683317	0.90[EUR][1000 genomes]
rs6866723	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6871713	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6879658	0.88[EUR][1000 genomes]
rs6879847	0.88[EUR][1000 genomes]
rs6884999	0.90[EUR][1000 genomes]
rs6895121	0.89[EUR][1000 genomes]
rs6895146	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7700425	0.89[EUR][1000 genomes]
rs7710337	0.89[EUR][1000 genomes]
rs7717351	0.89[EUR][1000 genomes]
rs7734224	0.81[CEU][hapmap]
rs7734985	0.85[CEU][hapmap]
rs9314163	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9314164	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv522097	chr5:95347786-95425199	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv522465	chr5:95347786-95425199	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1870270	SPATA9	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95358600-95373400	Weak transcription	Aorta	Aorta
2	chr5:95362600-95367600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:95362800-95367200	Weak transcription	NH-A	brain
4	chr5:95363000-95367600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:95363200-95367600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:95363400-95367600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:95363400-95367600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:95363400-95367800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:95363600-95367200	Weak transcription	Osteobl	bone
10	chr5:95363800-95367400	Weak transcription	NHLF	lung
11	chr5:95364600-95367200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:95366600-95367600	Enhancers	NHDF-Ad	bronchial
13	chr5:95367000-95367600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:95367000-95368000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:95367000-95368400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:95367000-95368400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:95367000-95368400	Enhancers	HMEC	breast
18	chr5:95367000-95368600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:95367000-95368600	Enhancers	NHEK	skin

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