Variant report

Variant	rs1471529
Chromosome Location	chr15:30043442-30043443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30042693..30044993-chr15:72522248..72524393,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067225	Chromatin interaction

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

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

rs_ID	r²[population]
rs10459668	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11073215	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11073218	0.92[YRI][hapmap]
rs12593287	0.90[EUR][1000 genomes]
rs13380161	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1480502	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1522797	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17671751	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1904812	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2337172	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs260527	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs260536	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs45478495	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs45586632	0.86[EUR][1000 genomes]
rs56887579	0.90[EUR][1000 genomes]
rs6495919	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7176466	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs747095	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs747958	1.00[CEU][hapmap]
rs8034926	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8042487	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs899848	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1471529	PSMB10	trans	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30016600-30052000	Weak transcription	Spleen	Spleen
2	chr15:30016600-30068200	Weak transcription	Brain Germinal Matrix	brain
3	chr15:30017600-30048600	Weak transcription	Fetal Brain Male	brain
4	chr15:30018200-30052000	Weak transcription	Gastric	stomach
5	chr15:30021200-30061600	Weak transcription	Colonic Mucosa	Colon
6	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
7	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
8	chr15:30026000-30051800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:30026000-30057600	Weak transcription	Esophagus	oesophagus
10	chr15:30028200-30047600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:30028200-30049200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:30029600-30048600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:30029800-30056000	Weak transcription	K562	blood
14	chr15:30030400-30060800	Weak transcription	Hela-S3	cervix
15	chr15:30030400-30067000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:30031600-30046200	Weak transcription	Fetal Kidney	kidney
17	chr15:30032800-30046400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:30033200-30046600	Weak transcription	NH-A	brain
19	chr15:30033200-30051800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:30033600-30049000	Weak transcription	HUVEC	blood vessel
21	chr15:30034200-30051400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:30034400-30048400	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:30034400-30051800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:30034400-30051800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:30034400-30057800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:30034800-30046400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:30034800-30052800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr15:30035000-30048400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:30035000-30048600	Weak transcription	Osteobl	bone
30	chr15:30035000-30048800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:30035000-30048800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:30035000-30053200	Weak transcription	Psoas Muscle	Psoas
33	chr15:30035200-30044600	Weak transcription	NHEK	skin
34	chr15:30035200-30045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:30035400-30048800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:30035800-30046400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:30038800-30043800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:30039800-30044200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:30040000-30043600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:30041200-30043600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr15:30041400-30043600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:30041800-30048200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:30042000-30044400	Weak transcription	Liver	Liver
44	chr15:30042000-30045000	Weak transcription	Brain Hippocampus Middle	brain
45	chr15:30042000-30045200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr15:30042000-30045200	Weak transcription	HSMMtube	muscle
47	chr15:30042000-30045600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr15:30042000-30045800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:30042000-30045800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:30042000-30046200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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