Variant report

Variant	rs1328388
Chromosome Location	chr6:39379854-39379855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10807207	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10947809	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs10947810	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10947811	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1106961	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12527811	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs1328383	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs1328389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1328390	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1887713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1999045	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs4142117	0.94[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4142118	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs4392720	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4714250	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs4714251	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs6458114	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6458115	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6900629	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6908396	0.94[CHB][hapmap];0.92[JPT][hapmap]
rs72850620	0.84[ASN][1000 genomes]
rs7759557	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs9367004	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs9367005	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs9367006	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs9369114	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs9380860	0.85[ASN][1000 genomes]
rs9394591	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9462543	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs9471089	0.84[ASN][1000 genomes]
rs9471090	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs9471092	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9471097	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9471098	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830645	chr6:39227601-39408310	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv533806	chr6:39270073-39397337	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv885822	chr6:39327708-39721216	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1328388	DNAH8,ORC6L	cis	intralobular white matter	BrainEAC

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39378600-39380000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:39378600-39380000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:39378600-39380200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:39378600-39380200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr6:39378600-39380200	Enhancers	HMEC	breast
6	chr6:39378800-39380000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:39378800-39380000	Enhancers	Brain Angular Gyrus	brain
8	chr6:39378800-39380000	Enhancers	Brain Substantia Nigra	brain
9	chr6:39379400-39380200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:39379600-39383200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:39379600-39383800	Weak transcription	Brain Anterior Caudate	brain
12	chr6:39379800-39383200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:39379800-39383800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:39379800-39383800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:39379800-39383800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:39379800-39383800	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:39379800-39383800	Weak transcription	NHDF-Ad	bronchial
18	chr6:39379800-39384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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