Variant report

Variant	rs179521
Chromosome Location	chr17:15173221-15173222
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15163352..15165763-chr17:15172551..15174503,2	MCF-7	breast:
2	chr17:15164336..15168726-chr17:15169806..15174602,5	K562	blood:
3	chr17:15166025..15168279-chr17:15170899..15173519,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109099	Chromatin interaction
ENSG00000265445	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1079974	0.95[CEU][hapmap]
rs1079975	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10852830	0.83[CEU][hapmap]
rs1121593	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11655300	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11656487	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12449862	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs16951285	0.82[EUR][1000 genomes]
rs1870428	0.95[CEU][hapmap]
rs1870429	0.83[CEU][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1870430	0.95[CEU][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2006787	0.83[CEU][hapmap];0.88[YRI][hapmap]
rs2024157	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2323652	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2323653	0.95[CEU][hapmap]
rs4791619	0.84[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4791620	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4792586	0.84[AMR][1000 genomes]
rs7217780	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8070951	0.82[EUR][1000 genomes]
rs8073642	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8073989	0.85[ASN][1000 genomes]
rs981250	0.96[ASN][1000 genomes]
rs9906323	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs179521	RHOBTB3	trans	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15168600-15174000	Weak transcription	Gastric	stomach
2	chr17:15168600-15174000	Weak transcription	Psoas Muscle	Psoas
3	chr17:15169000-15173600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr17:15169200-15176200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr17:15170600-15175600	Weak transcription	Lung	lung
6	chr17:15171400-15173600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:15172000-15173800	Enhancers	Adipose Nuclei	Adipose
8	chr17:15172000-15174000	Enhancers	Fetal Lung	lung
9	chr17:15172000-15177200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr17:15172200-15173800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:15172400-15174000	Weak transcription	HSMMtube	muscle
12	chr17:15172600-15174000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:15172800-15174200	Enhancers	Duodenum Mucosa	Duodenum
14	chr17:15172800-15174200	Enhancers	Right Atrium	heart
15	chr17:15173000-15173400	Bivalent Enhancer	HUVEC	blood vessel
16	chr17:15173000-15173600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:15173000-15175000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:15173000-15176000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:15173000-15176200	Weak transcription	Colon Smooth Muscle	Colon
20	chr17:15173000-15177400	Enhancers	NHDF-Ad	bronchial
21	chr17:15173200-15174800	Weak transcription	Pancreas	Pancrea
22	chr17:15173200-15175800	Enhancers	A549	lung
23	chr17:15173200-15176000	Weak transcription	Placenta	Placenta
24	chr17:15173200-15176200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr17:15173200-15176800	Weak transcription	Right Ventricle	heart
26	chr17:15173200-15177000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr17:15173200-15192600	Weak transcription	Left Ventricle	heart

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