Variant report

Variant	rs231014
Chromosome Location	chr17:15169255-15169256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs230911	0.89[JPT][hapmap]
rs231015	0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs231016	0.94[ASN][1000 genomes]
rs231019	0.93[ASN][1000 genomes]
rs231021	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs231022	0.83[ASN][1000 genomes]
rs231024	0.81[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][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
rs231014	UBB	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15167200-15171800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr17:15168600-15169600	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr17:15168600-15169600	Enhancers	Brain Substantia Nigra	brain
4	chr17:15168600-15170000	Weak transcription	Lung	lung
5	chr17:15168600-15171800	Enhancers	Fetal Heart	heart
6	chr17:15168600-15172000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr17:15168600-15172000	Weak transcription	Left Ventricle	heart
8	chr17:15168600-15172000	Weak transcription	Right Ventricle	heart
9	chr17:15168600-15172800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:15168600-15173200	Enhancers	Fetal Muscle Leg	muscle
11	chr17:15168600-15174000	Weak transcription	Gastric	stomach
12	chr17:15168600-15174000	Weak transcription	Psoas Muscle	Psoas
13	chr17:15168800-15169400	Enhancers	A549	lung
14	chr17:15168800-15171800	Weak transcription	Brain Angular Gyrus	brain
15	chr17:15168800-15171800	Weak transcription	Brain Hippocampus Middle	brain
16	chr17:15168800-15172200	Weak transcription	Brain Anterior Caudate	brain
17	chr17:15168800-15172800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr17:15168800-15173000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:15168800-15173000	Weak transcription	Pancreas	Pancrea
20	chr17:15169000-15169400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:15169000-15169600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr17:15169000-15169800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr17:15169000-15170000	Weak transcription	Fetal Lung	lung
24	chr17:15169000-15170000	Weak transcription	Right Atrium	heart
25	chr17:15169000-15171400	Weak transcription	Colon Smooth Muscle	Colon
26	chr17:15169000-15172000	Weak transcription	Ovary	ovary
27	chr17:15169000-15172000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr17:15169000-15172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr17:15169000-15173600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:15169200-15169600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:15169200-15170200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:15169200-15171400	Weak transcription	Fetal Stomach	stomach
33	chr17:15169200-15172000	Weak transcription	Adipose Nuclei	Adipose
34	chr17:15169200-15176200	Weak transcription	Rectal Smooth Muscle	rectum

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