Variant report

Variant	rs9591209
Chromosome Location	chr13:49325454-49325455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49323328..49325913-chr13:49330163..49332626,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12184704	0.92[EUR][1000 genomes]
rs12184705	0.92[EUR][1000 genomes]
rs12184837	0.82[ASN][1000 genomes]
rs17072179	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17072181	0.97[ASN][1000 genomes]
rs28445170	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56686141	0.82[ASN][1000 genomes]
rs56828527	0.82[ASN][1000 genomes]
rs58150329	0.85[ASN][1000 genomes]
rs59643165	0.82[ASN][1000 genomes]
rs7319904	0.80[ASN][1000 genomes]
rs7327830	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73478310	0.92[EUR][1000 genomes]
rs73478325	0.85[ASN][1000 genomes]
rs73480212	0.80[ASN][1000 genomes]
rs73480214	0.80[ASN][1000 genomes]
rs73480251	0.82[ASN][1000 genomes]
rs73484311	0.82[ASN][1000 genomes]
rs73484314	0.82[ASN][1000 genomes]
rs895967	0.80[ASN][1000 genomes]
rs895968	0.82[ASN][1000 genomes]
rs9591205	0.91[ASN][1000 genomes]
rs9591206	1.00[EUR][1000 genomes]
rs9591207	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591208	0.97[ASN][1000 genomes]
rs9591210	0.80[ASN][1000 genomes]
rs9591211	1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9595975	0.85[ASN][1000 genomes]
rs9595985	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595986	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595987	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595989	0.97[ASN][1000 genomes]
rs9595990	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9595991	0.94[ASN][1000 genomes]
rs9595993	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9595994	0.80[ASN][1000 genomes]
rs9595996	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs9596009	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036621	chr13:49310529-49346405	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1049066	chr13:49316146-49346405	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9591209	RCBTB2	cis	lymphoblastoid	seeQTL
rs9591209	ITM2B	cis	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49322400-49325800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:49323400-49325600	Enhancers	Placenta	Placenta
3	chr13:49323400-49325600	Enhancers	Fetal Stomach	stomach
4	chr13:49323400-49325600	Enhancers	Rectal Smooth Muscle	rectum
5	chr13:49323400-49325600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr13:49323400-49325800	Enhancers	Colon Smooth Muscle	Colon
7	chr13:49323600-49326000	Enhancers	Fetal Heart	heart
8	chr13:49323800-49325600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr13:49324000-49325600	Enhancers	Brain Angular Gyrus	brain
10	chr13:49324800-49325600	Enhancers	Aorta	Aorta
11	chr13:49324800-49325600	Enhancers	Left Ventricle	heart
12	chr13:49325000-49325800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:49325000-49325800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:49325000-49325800	Enhancers	Ovary	ovary
15	chr13:49325000-49329800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:49325200-49325600	Enhancers	Right Atrium	heart
17	chr13:49325200-49325600	Enhancers	Stomach Smooth Muscle	stomach
18	chr13:49325400-49325800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:49325400-49325800	Enhancers	Right Ventricle	heart
20	chr13:49325400-49327000	Enhancers	Dnd41	blood
21	chr13:49325400-49330200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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