Variant report

Variant	rs1522797
Chromosome Location	chr15:30077104-30077105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30075614..30079619-chr15:30112761..30115292,4	K562	blood:

Variant related genes	Relation type
ENSG00000259523	Chromatin interaction
ENSG00000104067	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10459668	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11073215	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11073218	0.90[YRI][hapmap]
rs12593287	0.86[EUR][1000 genomes]
rs13380161	1.00[ASW][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1471529	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1480502	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17671751	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs1904812	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2337172	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs260527	1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs260536	1.00[GIH][hapmap];0.88[MEX][hapmap];0.86[EUR][1000 genomes]
rs45478495	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs45586632	0.82[EUR][1000 genomes]
rs56887579	0.86[EUR][1000 genomes]
rs6495919	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7176466	1.00[ASW][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs747095	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8034926	1.00[ASW][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8042487	1.00[ASW][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs899848	1.00[ASW][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[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	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
7	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
8	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
9	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
10	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
11	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1522797	PSMB10	trans	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
2	chr15:30052600-30089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:30058600-30092200	Weak transcription	Esophagus	oesophagus
4	chr15:30058600-30106000	Weak transcription	Gastric	stomach
5	chr15:30059800-30086200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr15:30062800-30096600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:30063800-30096000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:30063800-30096800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:30064000-30085600	Weak transcription	Fetal Stomach	stomach
10	chr15:30064000-30085800	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:30064400-30083800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:30065200-30103400	Weak transcription	Placenta	Placenta
13	chr15:30065600-30085400	Weak transcription	Fetal Intestine Large	intestine
14	chr15:30065600-30090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:30065600-30094400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:30065600-30094400	Weak transcription	Fetal Intestine Small	intestine
17	chr15:30065600-30108200	Weak transcription	Pancreas	Pancrea
18	chr15:30067400-30097400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:30067600-30080600	Weak transcription	NHLF	lung
20	chr15:30071200-30080600	Weak transcription	Liver	Liver
21	chr15:30071200-30090000	Weak transcription	Adipose Nuclei	Adipose
22	chr15:30071600-30077200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:30071800-30077200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:30071800-30077400	Weak transcription	Brain Angular Gyrus	brain
25	chr15:30071800-30077400	Weak transcription	Psoas Muscle	Psoas
26	chr15:30071800-30081400	Weak transcription	Fetal Heart	heart
27	chr15:30071800-30097600	Weak transcription	K562	blood
28	chr15:30072200-30077400	Weak transcription	Brain Anterior Caudate	brain
29	chr15:30072400-30085400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:30072800-30077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:30072800-30077400	Weak transcription	Brain Hippocampus Middle	brain
32	chr15:30072800-30078800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:30072800-30085600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:30072800-30089200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:30072800-30090000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:30072800-30091200	Weak transcription	Lung	lung
37	chr15:30072800-30092800	Weak transcription	Right Atrium	heart
38	chr15:30073000-30085600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr15:30073600-30077600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:30074400-30077600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:30074600-30082000	Weak transcription	Right Ventricle	heart
42	chr15:30074600-30085800	Weak transcription	Fetal Lung	lung
43	chr15:30074800-30077800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:30074800-30085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr15:30075800-30077200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:30075800-30078000	Weak transcription	Stomach Mucosa	stomach
47	chr15:30075800-30078800	Enhancers	HUVEC	blood vessel
48	chr15:30075800-30081000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:30076000-30077400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:30076000-30077400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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