Variant report

Variant	rs12593287
Chromosome Location	chr15:30103837-30103838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:30099510..30101653-chr15:30102789..30104462,3	MCF-7	breast:
2	chr15:30094465..30098543-chr15:30102930..30106302,5	K562	blood:
3	chr15:30086191..30088708-chr15:30102161..30104753,2	K562	blood:
4	chr15:30103514..30110154-chr15:30110674..30116017,8	MCF-7	breast:
5	chr15:30091964..30094234-chr15:30103253..30105641,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104067	Chromatin interaction
ENSG00000259523	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10459668	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11073215	0.86[EUR][1000 genomes]
rs13380161	0.90[EUR][1000 genomes]
rs1471529	0.90[EUR][1000 genomes]
rs1480502	0.82[EUR][1000 genomes]
rs1522797	0.86[EUR][1000 genomes]
rs1719321	1.00[AMR][1000 genomes]
rs17671751	0.86[EUR][1000 genomes]
rs1904812	0.90[EUR][1000 genomes]
rs2337172	0.90[EUR][1000 genomes]
rs260527	0.90[EUR][1000 genomes]
rs260536	0.81[EUR][1000 genomes]
rs45478495	0.81[EUR][1000 genomes]
rs45586632	0.95[EUR][1000 genomes]
rs56887579	0.81[EUR][1000 genomes]
rs6495919	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7176466	0.86[EUR][1000 genomes]
rs747095	0.90[EUR][1000 genomes]
rs8032316	0.85[AMR][1000 genomes]
rs8034926	0.90[EUR][1000 genomes]
rs8042487	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs899848	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv1845759	chr15:30097078-30142373	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12593287	PSMB10	trans	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30058600-30106000	Weak transcription	Gastric	stomach
2	chr15:30065600-30108200	Weak transcription	Pancreas	Pancrea
3	chr15:30082400-30113600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:30086000-30107600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:30091800-30108000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:30092600-30111400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:30093000-30107600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:30094600-30107600	Weak transcription	Left Ventricle	heart
9	chr15:30095200-30107000	Weak transcription	Fetal Intestine Small	intestine
10	chr15:30097600-30104000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:30097600-30104200	Weak transcription	Fetal Kidney	kidney
12	chr15:30097600-30104400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:30097800-30104000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:30097800-30104200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:30097800-30107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:30098000-30104200	Weak transcription	NHEK	skin
17	chr15:30098000-30104400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:30098000-30106400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr15:30098000-30107600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:30098000-30111600	Weak transcription	Fetal Muscle Leg	muscle
21	chr15:30098000-30112400	Weak transcription	Fetal Stomach	stomach
22	chr15:30098200-30104000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:30098200-30104200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:30098200-30104400	Weak transcription	HUVEC	blood vessel
25	chr15:30098200-30104600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:30098200-30105000	Weak transcription	HSMM	muscle
27	chr15:30098200-30105800	Weak transcription	Right Atrium	heart
28	chr15:30098200-30107600	Weak transcription	Ovary	ovary
29	chr15:30098400-30104000	Weak transcription	Osteobl	bone
30	chr15:30098400-30111600	Weak transcription	HSMMtube	muscle
31	chr15:30098600-30104800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr15:30098800-30104600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:30098800-30104600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:30099000-30104200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:30099000-30104200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:30099000-30104200	Weak transcription	Fetal Lung	lung
37	chr15:30099000-30104800	Weak transcription	K562	blood
38	chr15:30099000-30104800	Weak transcription	NHLF	lung
39	chr15:30099000-30106000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:30099000-30107600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr15:30099400-30104200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr15:30100800-30108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:30101000-30104200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:30102400-30105200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr15:30102400-30108600	Enhancers	Brain Anterior Caudate	brain
46	chr15:30102600-30105200	Enhancers	Liver	Liver
47	chr15:30102600-30106800	Enhancers	Brain Angular Gyrus	brain
48	chr15:30102600-30108800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr15:30102600-30108800	Enhancers	Brain Hippocampus Middle	brain
50	chr15:30102800-30106000	Enhancers	Placenta Amnion	Placenta Amnion

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