Variant report

Variant	rs8023333
Chromosome Location	chr15:83236050-83236051
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83230372..83232700-chr15:83234500..83237341,4	MCF-7	breast:
2	chr15:83235619..83237139-chr15:83239515..83241370,2	MCF-7	breast:
3	chr15:83212827..83216127-chr15:83234244..83236895,3	MCF-7	breast:
4	chr15:83217974..83220864-chr15:83234820..83237093,3	MCF-7	breast:
5	chr15:83236014..83238292-chr15:83349885..83351616,2	MCF-7	breast:
6	chr15:83234815..83238335-chr15:83239517..83241616,4	K562	blood:
7	chr15:83218421..83221235-chr15:83235743..83238150,2	K562	blood:

Variant related genes	Relation type
ENSG00000103723	Chromatin interaction
ENSG00000214575	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10163167	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10468216	0.85[AFR][1000 genomes]
rs10520565	0.88[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs12148608	0.94[CHB][hapmap];0.97[CHD][hapmap]
rs12438371	0.87[LWK][hapmap];0.83[AFR][1000 genomes]
rs12441668	0.83[AFR][1000 genomes]
rs12441776	0.86[AFR][1000 genomes]
rs12592022	0.81[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs1267658	0.95[LWK][hapmap];0.88[MKK][hapmap];0.84[AFR][1000 genomes]
rs17158405	0.80[AFR][1000 genomes]
rs17841171	0.87[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap]
rs28493687	0.93[ASN][1000 genomes]
rs2871011	0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs4779032	0.95[LWK][hapmap];0.88[MKK][hapmap];0.87[AFR][1000 genomes]
rs4779042	0.84[ASN][1000 genomes]
rs55844519	0.87[AFR][1000 genomes]
rs59746564	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs783545	0.83[AFR][1000 genomes]
rs8039549	0.92[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	nsv427965	chr15:82741381-83310525	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv428309	chr15:82741381-83310525	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2758391	chr15:82879646-83310525	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	esv2760046	chr15:82879646-83310525	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1035899	chr15:83108446-83315731	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833071	chr15:83123646-83310510	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8023333	LOC283726	cis	multi-tissue	Pritchard
rs8023333	C15orf26	cis	parietal	SCAN
rs8023333	HDGFRP3	cis	parietal	SCAN
rs8023333	FAM154B	cis	lymphoblastoid	seeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83219000-83239400	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:83219800-83239800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:83222000-83239200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr15:83222200-83237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:83222600-83239400	Weak transcription	Fetal Stomach	stomach
6	chr15:83222600-83239600	Weak transcription	Ovary	ovary
7	chr15:83222600-83239600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:83222800-83240600	Weak transcription	Aorta	Aorta
9	chr15:83223800-83239600	Weak transcription	Brain Substantia Nigra	brain
10	chr15:83224800-83239800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:83232200-83239400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:83232600-83239600	Weak transcription	Fetal Lung	lung
13	chr15:83233800-83236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:83233800-83237200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:83234000-83238600	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:83234200-83238800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:83234400-83237600	Weak transcription	Brain Anterior Caudate	brain
18	chr15:83234400-83239400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr15:83234400-83239800	Weak transcription	HSMMtube	muscle
20	chr15:83234600-83236200	Enhancers	HepG2	liver
21	chr15:83234600-83239600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:83234600-83239800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr15:83234600-83239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:83234800-83236200	Enhancers	Osteobl	bone
25	chr15:83234800-83236400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:83234800-83238800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr15:83234800-83239400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr15:83234800-83239400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:83234800-83239600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:83235000-83237200	Enhancers	NHDF-Ad	bronchial
31	chr15:83235200-83236200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:83235200-83237200	Genic enhancers	K562	blood
33	chr15:83235400-83236400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:83235400-83236800	Strong transcription	Brain Cingulate Gyrus	brain
35	chr15:83235600-83237200	Weak transcription	Brain Angular Gyrus	brain
36	chr15:83235800-83237000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr15:83235800-83239400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:83235800-83239600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:83236000-83237600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:83236000-83239200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr15:83236000-83239200	Weak transcription	NHLF	lung
42	chr15:83236000-83239400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:83236000-83239600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:83236000-83239600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:83236000-83239600	Weak transcription	NH-A	brain
46	chr15:83236000-83243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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