Variant report

Variant	rs6869363
Chromosome Location	chr5:115112928-115112929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:115112872-115112996	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:86588289..86588860-chr5:115112842..115113676,2	MCF-7	breast:

Variant related genes	Relation type
RNU2-49P	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10044983	0.80[EUR][1000 genomes]
rs10060156	0.81[EUR][1000 genomes]
rs10061410	0.81[EUR][1000 genomes]
rs10061579	0.82[EUR][1000 genomes]
rs10066093	0.82[EUR][1000 genomes]
rs10066139	0.80[EUR][1000 genomes]
rs10067787	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10067851	0.84[EUR][1000 genomes]
rs10069142	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10076240	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10076383	0.83[EUR][1000 genomes]
rs10077593	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10079490	0.86[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1014496	0.81[EUR][1000 genomes]
rs10214181	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1422286	0.83[EUR][1000 genomes]
rs1472623	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2080903	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2098631	0.83[EUR][1000 genomes]
rs249488	0.86[EUR][1000 genomes]
rs4920891	0.83[EUR][1000 genomes]
rs4921023	0.81[EUR][1000 genomes]
rs4921024	0.83[EUR][1000 genomes]
rs5028206	0.81[EUR][1000 genomes]
rs56104345	0.83[EUR][1000 genomes]
rs59276809	0.81[EUR][1000 genomes]
rs62371714	0.83[EUR][1000 genomes]
rs62371715	0.86[EUR][1000 genomes]
rs731649	1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs731650	0.87[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7706913	0.87[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1024641	chr5:115030110-115123474	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1021139	chr5:115036724-115131280	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv882734	chr5:115112928-115130906	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6869363	REEP5	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115091800-115117200	Weak transcription	Liver	Liver
2	chr5:115110800-115117400	Weak transcription	Ovary	ovary
3	chr5:115111000-115114000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:115112800-115113000	Enhancers	Right Atrium	heart

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