Variant report

Variant	rs45478495
Chromosome Location	chr15:29999535-29999536
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:29999520-29999762	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr15:29999446-29999748	K562	blood:	n/a	n/a
3	POLR2A	chr15:29999266-29999924	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:29993453..29996171-chr15:29998499..30000876,2	K562	blood:

Variant related genes	Relation type
TJP1	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10459668	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11073215	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12593287	0.81[EUR][1000 genomes]
rs13380161	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1471529	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1480502	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1522797	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17671751	0.86[EUR][1000 genomes]
rs1904812	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2337172	0.90[EUR][1000 genomes]
rs260527	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs260536	0.90[EUR][1000 genomes]
rs56887579	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6495919	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7176466	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs747095	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8034926	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8042487	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs899848	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv903747	chr15:29361126-30008977	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv832944	chr15:29861062-30082057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs45478495	PSMB10	trans	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:29989000-30014800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr15:29989600-30002400	Strong transcription	Fetal Muscle Leg	muscle
3	chr15:29989600-30013400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:29989600-30021200	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:29989600-30027200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:29989800-30000600	Strong transcription	Adipose Nuclei	Adipose
7	chr15:29990000-30014200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:29990000-30016600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:29990200-30000600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:29990200-30013600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:29990200-30016200	Strong transcription	Left Ventricle	heart
12	chr15:29990200-30028400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:29990400-30014200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:29990400-30014400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr15:29990400-30014400	Strong transcription	Placenta	Placenta
16	chr15:29990400-30026400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr15:29990600-30004800	Strong transcription	Fetal Intestine Large	intestine
18	chr15:29990600-30014200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:29990800-30014400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:29991000-30014200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:29991200-30003600	Strong transcription	HSMM	muscle
22	chr15:29991200-30013800	Strong transcription	NH-A	brain
23	chr15:29991200-30014200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:29991200-30014400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr15:29991200-30014400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:29991200-30014600	Strong transcription	Osteobl	bone
27	chr15:29991200-30020200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:29991200-30022400	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:29991400-30005800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr15:29991600-30003200	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr15:29991600-30014400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:29992000-30026600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:29992200-30014800	Weak transcription	Small Intestine	intestine
34	chr15:29992600-30004200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr15:29993200-30003200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:29993200-30003200	Strong transcription	Ovary	ovary
37	chr15:29993200-30019600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:29993800-30003200	Strong transcription	Brain Substantia Nigra	brain
39	chr15:29994200-30003200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr15:29994400-30003200	Strong transcription	Fetal Intestine Small	intestine
41	chr15:29994400-30003200	Strong transcription	HUVEC	blood vessel
42	chr15:29994400-30004000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:29994400-30004000	Strong transcription	Fetal Stomach	stomach
44	chr15:29994600-30003200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:29994600-30003400	Strong transcription	HepG2	liver
46	chr15:29995000-30001600	Strong transcription	A549	lung
47	chr15:29995400-30002400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:29995600-30014200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:29996000-30003200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr15:29996000-30003200	Strong transcription	Rectal Mucosa Donor 29	rectum

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