Variant report

Variant	rs192046
Chromosome Location	chr17:15128396-15128397
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13422	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.97[EUR][1000 genomes]
rs179520	1.00[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs1860295	0.94[EUR][1000 genomes]
rs230913	0.80[EUR][1000 genomes]
rs230914	0.81[EUR][1000 genomes]
rs230930	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs230931	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230934	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230935	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs230936	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs230937	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs230939	0.97[EUR][1000 genomes]
rs230941	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.97[EUR][1000 genomes]
rs230942	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs230943	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs230944	0.97[EUR][1000 genomes]
rs230946	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs230947	1.00[CEU][hapmap];0.93[GIH][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs230949	0.93[EUR][1000 genomes]
rs230950	1.00[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs231023	0.90[CHD][hapmap]
rs2531951	0.94[EUR][1000 genomes]
rs66507245	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs192046	SMCR5	cis	parietal	SCAN
rs192046	ADORA2B	cis	parietal	SCAN
rs192046	MPRIP	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15124000-15136000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr17:15124200-15132200	Weak transcription	Fetal Muscle Leg	muscle
3	chr17:15124200-15132400	Weak transcription	Ovary	ovary
4	chr17:15124200-15132400	Weak transcription	HSMMtube	muscle
5	chr17:15124400-15130600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:15124400-15130600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:15124400-15131600	Weak transcription	Adipose Nuclei	Adipose
8	chr17:15124400-15131800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:15124400-15131800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:15124400-15131800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:15124400-15132200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:15124400-15132600	Weak transcription	Osteobl	bone
13	chr17:15124600-15131600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:15125000-15131800	Weak transcription	NHDF-Ad	bronchial
15	chr17:15127200-15132600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:15127800-15132600	Weak transcription	Aorta	Aorta
17	chr17:15128000-15131800	Weak transcription	Fetal Stomach	stomach
18	chr17:15128000-15132800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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