Variant report

Variant	rs8181125
Chromosome Location	chr9:86052419-86052420
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	chr9:86046794..86050465-chr9:86050692..86054566,4	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10868008	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140069	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11140072	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11140077	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140092	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12683112	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12685254	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17086237	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2375922	0.81[CEU][hapmap]
rs28512300	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3860918	0.84[ASW][hapmap];0.87[MKK][hapmap]
rs4877758	0.81[GIH][hapmap]
rs56009714	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56039713	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57873233	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6559725	0.90[JPT][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72745064	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745071	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7875766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181119	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	nsv1046491	chr9:85861492-86063992	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1048086	chr9:86040900-86059732	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8181125	RMI1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86047400-86052600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:86047400-86056600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:86047400-86059000	Weak transcription	Placenta	Placenta
4	chr9:86047600-86053800	Weak transcription	Aorta	Aorta
5	chr9:86047600-86055800	Weak transcription	Esophagus	oesophagus
6	chr9:86047600-86055800	Weak transcription	Ovary	ovary
7	chr9:86047600-86059200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:86047600-86062400	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:86048200-86056400	Weak transcription	A549	lung
10	chr9:86049400-86055200	Weak transcription	Gastric	stomach
11	chr9:86049400-86055200	Weak transcription	Spleen	Spleen
12	chr9:86049400-86055600	Weak transcription	Right Atrium	heart
13	chr9:86050000-86055200	Weak transcription	Right Ventricle	heart
14	chr9:86050400-86055600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:86051200-86054400	Weak transcription	Pancreas	Pancrea
16	chr9:86051200-86055400	Weak transcription	Left Ventricle	heart
17	chr9:86051200-86055600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:86051600-86055200	Weak transcription	Fetal Heart	heart
19	chr9:86051800-86055400	Weak transcription	Psoas Muscle	Psoas
20	chr9:86052400-86053000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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