Variant report

Variant	rs478070
Chromosome Location	chr6:69465349-69465350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:69460973..69463599-chr6:69463618..69467509,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10806605	0.92[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs10945134	0.91[JPT][hapmap]
rs12194992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12196021	0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs12197039	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1523931	0.94[CHB][hapmap];0.89[CHD][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1523932	0.92[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs2024561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2254150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2256337	0.87[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]
rs2585593	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.96[ASN][1000 genomes]
rs2585594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2585618	0.87[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]
rs2746126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2746129	0.97[ASN][1000 genomes]
rs2802699	0.87[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs2802705	0.87[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap]
rs28395490	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4554295	0.91[JPT][hapmap]
rs4607402	0.91[JPT][hapmap]
rs530888	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs639338	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6455297	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6902378	0.81[EUR][1000 genomes]
rs6908159	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6930275	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7753280	0.98[ASN][1000 genomes]
rs9342729	0.82[JPT][hapmap]
rs9342730	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9342731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9346233	1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9346234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9346236	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9346237	0.88[CEU][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9346238	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9351734	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9351735	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9354797	0.91[ASN][1000 genomes]
rs9363962	0.82[JPT][hapmap]
rs9363966	0.81[EUR][1000 genomes]
rs992785	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs478070	FAM135A	cis	parietal	SCAN
rs478070	SMAP1	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69457400-69466000	Weak transcription	Fetal Brain Female	brain
2	chr6:69457400-69466400	Weak transcription	Brain Anterior Caudate	brain
3	chr6:69461000-69465400	Weak transcription	Brain Angular Gyrus	brain
4	chr6:69463400-69470800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:69464000-69469000	Enhancers	Brain Substantia Nigra	brain
6	chr6:69464600-69465400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr6:69464600-69465600	Enhancers	K562	blood
8	chr6:69464600-69465800	Enhancers	Brain Hippocampus Middle	brain
9	chr6:69464600-69468000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:69464800-69465400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr6:69464800-69468400	Enhancers	Fetal Lung	lung
12	chr6:69465000-69465400	Enhancers	Brain Cingulate Gyrus	brain
13	chr6:69465200-69465400	Enhancers	Fetal Brain Male	brain
14	chr6:69465200-69465400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:69465200-69466200	Enhancers	Adipose Nuclei	Adipose
16	chr6:69465200-69466200	Enhancers	Fetal Stomach	stomach
17	chr6:69465200-69468200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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