Variant report

Variant	rs6868112
Chromosome Location	chr5:40816007-40816008
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40812798..40819830-chr5:40821906..40830676,11	MCF-7	breast:
2	chr5:40755386..40757497-chr5:40815665..40817353,2	K562	blood:
3	chr5:40815974..40818536-chr5:40833401..40836504,4	MCF-7	breast:
4	chr5:40813012..40816199-chr5:40833185..40835725,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113638	Chromatin interaction
ENSG00000145592	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10035235	0.90[JPT][hapmap]
rs10053664	0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10054398	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10062565	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10066459	0.86[GIH][hapmap];0.84[JPT][hapmap]
rs10069737	0.89[GIH][hapmap];0.84[JPT][hapmap]
rs1015027	0.89[GIH][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap]
rs10941525	0.89[GIH][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap]
rs11747210	0.93[ASW][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs12514352	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12517210	0.93[ASW][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs12520058	0.84[JPT][hapmap]
rs12523329	0.84[JPT][hapmap]
rs1363847	0.83[JPT][hapmap]
rs2270625	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2291782	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs3792827	0.83[JPT][hapmap]
rs3805489	0.89[JPT][hapmap]
rs3805490	0.90[JPT][hapmap]
rs3805492	0.90[JPT][hapmap]
rs3805494	0.90[JPT][hapmap]
rs3805499	0.84[JPT][hapmap]
rs3816959	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4957334	0.84[JPT][hapmap]
rs4957350	0.81[AFR][1000 genomes]
rs62357564	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6884484	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7719692	0.84[JPT][hapmap]
rs7721093	0.84[JPT][hapmap]
rs7725810	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9800106	0.85[AFR][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	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
3	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6868112	RPL37	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40808400-40826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:40808800-40825600	Weak transcription	HSMM	muscle
3	chr5:40813200-40823600	Weak transcription	K562	blood
4	chr5:40814000-40821600	Weak transcription	Thymus	Thymus
5	chr5:40814200-40826000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:40814200-40826000	Weak transcription	GM12878-XiMat	blood
7	chr5:40814200-40826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:40814400-40825000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:40814400-40825200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:40814600-40827000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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