Variant report

Variant	rs8092501
Chromosome Location	chr18:8991193-8991194
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	chr18:8974277..8977076-chr18:8989092..8991571,2	MCF-7	breast:
2	chr18:8988621..8991582-chr18:9016532..9018302,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28733090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4797346	0.92[ASN][1000 genomes]
rs4798739	0.86[ASN][1000 genomes]
rs4798740	0.86[ASN][1000 genomes]
rs57259999	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8092501	TUBB6	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8986200-8991200	Enhancers	K562	blood
2	chr18:8986800-8992600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:8988200-8991400	Enhancers	Liver	Liver
4	chr18:8988200-8994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:8989400-8991800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:8989600-8991400	Enhancers	Colon Smooth Muscle	Colon
7	chr18:8989800-8991600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr18:8990000-8991200	Enhancers	Fetal Muscle Leg	muscle
9	chr18:8990000-8991600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:8990000-8992200	Enhancers	NHDF-Ad	bronchial
11	chr18:8990200-8991800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:8990200-8992000	Enhancers	HSMMtube	muscle
13	chr18:8990400-8991200	Enhancers	Brain Hippocampus Middle	brain
14	chr18:8990400-8991600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr18:8990400-8991800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr18:8990400-8991800	Enhancers	HSMM	muscle
17	chr18:8990600-8991400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:8990600-8991400	Enhancers	Rectal Smooth Muscle	rectum
19	chr18:8990600-8991800	Enhancers	NHLF	lung
20	chr18:8990600-8998800	Weak transcription	A549	lung
21	chr18:8990800-8991800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr18:8990800-8994800	Weak transcription	HMEC	breast
23	chr18:8991000-8991200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr18:8991000-8991400	Weak transcription	NH-A	brain
25	chr18:8991000-8991400	Enhancers	Osteobl	bone
26	chr18:8991000-8991600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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