Variant report

Variant	rs10102945
Chromosome Location	chr8:61307115-61307116
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	chr8:61304106..61306671-chr8:61306892..61309869,2	K562	blood:
2	chr8:61181201..61184970-chr8:61306411..61309605,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10087760	0.88[ASN][1000 genomes]
rs10092773	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10504312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11988766	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11988798	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12548711	0.83[ASN][1000 genomes]
rs1318227	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1552070	0.86[ASN][1000 genomes]
rs1842388	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1893277	0.91[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1893279	0.81[ASN][1000 genomes]
rs1941467	0.83[ASN][1000 genomes]
rs2012856	0.90[ASN][1000 genomes]
rs2068587	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2155831	0.92[ASN][1000 genomes]
rs6471873	0.82[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471877	0.90[ASN][1000 genomes]
rs6471880	0.86[ASN][1000 genomes]
rs6471881	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6982032	0.87[ASN][1000 genomes]
rs6982404	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6986664	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6994192	0.88[ASN][1000 genomes]
rs6998307	0.88[ASN][1000 genomes]
rs6999822	0.91[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs7001436	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7004236	0.83[ASN][1000 genomes]
rs7005668	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7017939	0.86[EUR][1000 genomes]
rs7814226	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819947	0.86[ASN][1000 genomes]
rs7824474	0.85[ASN][1000 genomes]
rs7824671	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7828383	0.95[ASN][1000 genomes]
rs7831106	0.86[ASN][1000 genomes]
rs7841648	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9785091	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv890944	chr8:61252500-61307115	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10102945	OR6Q1	trans	parietal	SCAN
rs10102945	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61302400-61308800	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:61304800-61308600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:61305000-61308600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:61305800-61310000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:61306600-61308000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:61306600-61308800	Weak transcription	Fetal Lung	lung
7	chr8:61306800-61308400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:61306800-61308600	Weak transcription	Fetal Stomach	stomach
9	chr8:61307000-61308200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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