Variant report

Variant	rs11959256
Chromosome Location	chr5:112018894-112018895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112017960..112020508-chr5:112020777..112023084,3	K562	blood:
2	chr5:112003283..112005720-chr5:112018708..112021018,2	MCF-7	breast:
3	chr5:112015114..112017797-chr5:112018212..112021156,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11953322	0.94[YRI][hapmap]
rs13354752	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13358140	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134945	1.00[MKK][hapmap]
rs17285176	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289485	0.90[MKK][hapmap];0.83[YRI][hapmap]
rs28735412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34514613	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36035622	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887380	0.83[YRI][hapmap]
rs6867422	0.88[YRI][hapmap]
rs6888572	0.89[YRI][hapmap]
rs7714497	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722744	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11959256	REEP5	cis	parietal	SCAN
rs11959256	SRP19	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112014400-112020200	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:112016400-112022600	Enhancers	NHDF-Ad	bronchial
3	chr5:112017400-112019600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:112017400-112020200	Weak transcription	Psoas Muscle	Psoas
5	chr5:112017600-112019600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:112017600-112019600	Weak transcription	Brain Germinal Matrix	brain
7	chr5:112017600-112019600	Weak transcription	Fetal Heart	heart
8	chr5:112017600-112019600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:112017600-112020000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:112017600-112020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:112017800-112019600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:112017800-112019600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:112017800-112019600	Weak transcription	GM12878-XiMat	blood
14	chr5:112018000-112020200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:112018200-112019600	Weak transcription	HSMM	muscle
16	chr5:112018400-112019600	Weak transcription	NHLF	lung
17	chr5:112018400-112019800	Weak transcription	Fetal Brain Male	brain
18	chr5:112018400-112020600	Weak transcription	Fetal Brain Female	brain
19	chr5:112018800-112019600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:112018800-112019600	Weak transcription	HSMMtube	muscle
21	chr5:112018800-112020000	Weak transcription	Osteobl	bone
22	chr5:112018800-112024200	Weak transcription	K562	blood

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