Variant report

Variant	rs8034926
Chromosome Location	chr15:30057625-30057626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:30055034..30056765-chr15:30057565..30059785,2	K562	blood:
2	chr15:30056869..30058668-chr15:30062635..30065302,2	MCF-7	breast:
3	chr15:30054766..30057672-chr15:30112714..30114260,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104067	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	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11073215	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11073218	0.90[YRI][hapmap]
rs12593287	0.90[EUR][1000 genomes]
rs13380161	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1471529	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1480502	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1522797	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]
rs17671751	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs1904812	1.00[ASW][hapmap];1.00[CEU][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];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2337172	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs260527	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs260536	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs45478495	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs45586632	0.86[EUR][1000 genomes]
rs56887579	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6495919	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7176466	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs747095	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs747958	1.00[CEU][hapmap]
rs8042487	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs899848	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[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
rs8034926	PSMB10	trans	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30016600-30068200	Weak transcription	Brain Germinal Matrix	brain
2	chr15:30021200-30061600	Weak transcription	Colonic Mucosa	Colon
3	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
4	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
5	chr15:30030400-30060800	Weak transcription	Hela-S3	cervix
6	chr15:30030400-30067000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:30034400-30057800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:30042000-30061800	Weak transcription	Pancreas	Pancrea
9	chr15:30042200-30057800	Weak transcription	Right Ventricle	heart
10	chr15:30044600-30064000	Strong transcription	Fetal Intestine Large	intestine
11	chr15:30046400-30064400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:30047000-30065000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:30047000-30066000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:30049400-30066400	Weak transcription	Small Intestine	intestine
15	chr15:30049600-30061600	Weak transcription	Fetal Brain Male	brain
16	chr15:30050000-30064000	Strong transcription	Placenta	Placenta
17	chr15:30050200-30059400	Weak transcription	Right Atrium	heart
18	chr15:30050200-30070600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr15:30050400-30064400	Strong transcription	HSMM	muscle
20	chr15:30050600-30063400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:30050800-30057800	Strong transcription	Left Ventricle	heart
22	chr15:30050800-30058000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:30051000-30058400	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr15:30051400-30057800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:30051400-30058800	Strong transcription	Adipose Nuclei	Adipose
26	chr15:30051400-30060600	Strong transcription	HepG2	liver
27	chr15:30051400-30063600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:30051600-30065600	Strong transcription	NHEK	skin
29	chr15:30051800-30057800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:30051800-30058200	Strong transcription	Fetal Muscle Leg	muscle
31	chr15:30051800-30058400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:30051800-30059200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:30051800-30059200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr15:30051800-30061800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:30051800-30063800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr15:30052000-30058800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:30052000-30063800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:30052000-30065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:30052000-30070600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:30052200-30057800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:30052200-30058200	Strong transcription	Osteobl	bone
42	chr15:30052400-30064400	Strong transcription	HUVEC	blood vessel
43	chr15:30052600-30061600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:30052600-30067600	Weak transcription	Stomach Mucosa	stomach
45	chr15:30052600-30089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:30052800-30057800	Weak transcription	Gastric	stomach
47	chr15:30053000-30064600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr15:30053000-30072600	Weak transcription	Spleen	Spleen
49	chr15:30053200-30058000	Strong transcription	Psoas Muscle	Psoas
50	chr15:30053200-30058200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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