Variant report

Variant	rs11153450
Chromosome Location	chr6:114145603-114145604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114145475..114147514-chr6:114178396..114179980,2	MCF-7	breast:
2	chr6:114143592..114145943-chr6:114178562..114180507,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155130	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10872108	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10872109	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11153442	0.82[ASN][1000 genomes]
rs11153443	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11153446	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11153447	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11757604	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12202789	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12205735	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1462381	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1980375	0.95[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2348532	0.84[ASN][1000 genomes]
rs4034906	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4089883	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4945974	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6909293	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6919507	0.85[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.82[MKK][hapmap]
rs7764655	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7773346	0.84[ASN][1000 genomes]
rs9372379	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs9372380	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9374428	0.81[ASN][1000 genomes]
rs9384884	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9400673	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs954620	0.95[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap]
rs959619	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11153450	REV3L	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114134600-114146400	Weak transcription	Stomach Mucosa	stomach
2	chr6:114141200-114145800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:114141400-114145800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:114141400-114146800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:114141400-114150200	Weak transcription	Fetal Intestine Large	intestine
6	chr6:114141600-114147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:114142800-114146600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:114143000-114146600	Weak transcription	Psoas Muscle	Psoas
9	chr6:114144400-114147800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:114144800-114147600	Enhancers	Rectal Smooth Muscle	rectum
11	chr6:114145000-114145800	Enhancers	Brain Substantia Nigra	brain
12	chr6:114145000-114146000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:114145000-114147000	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:114145000-114147200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:114145000-114147400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr6:114145000-114147400	Enhancers	Ovary	ovary
17	chr6:114145000-114147600	Enhancers	Brain Anterior Caudate	brain
18	chr6:114145000-114147800	Enhancers	Colon Smooth Muscle	Colon
19	chr6:114145000-114147800	Enhancers	Fetal Stomach	stomach
20	chr6:114145200-114145800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:114145200-114145800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr6:114145200-114146000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:114145400-114145800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:114145400-114146000	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr6:114145400-114147400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:114145400-114147400	Enhancers	HSMMtube	muscle
27	chr6:114145400-114147600	Enhancers	Brain Germinal Matrix	brain
28	chr6:114145400-114147600	Enhancers	Fetal Muscle Leg	muscle
29	chr6:114145600-114145800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:114145600-114145800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:114145600-114145800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:114145600-114145800	Active TSS	Osteobl	bone
33	chr6:114145600-114146000	Flanking Active TSS	Fetal Lung	lung
34	chr6:114145600-114146200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:114145600-114146200	Enhancers	Brain Angular Gyrus	brain
36	chr6:114145600-114146200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:114145600-114146200	Enhancers	Small Intestine	intestine
38	chr6:114145600-114146200	Flanking Active TSS	NHLF	lung
39	chr6:114145600-114147200	Enhancers	Pancreas	Pancrea
40	chr6:114145600-114147400	Enhancers	Right Atrium	heart
41	chr6:114145600-114147800	Enhancers	Adipose Nuclei	Adipose
42	chr6:114145600-114148000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:114145600-114148000	Enhancers	HSMM	muscle

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