Variant report

Variant	rs8023522
Chromosome Location	chr15:93387339-93387340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:93374410..93376442-chr15:93386439..93388022,2	K562	blood:
2	chr15:93345885..93348752-chr15:93386057..93388854,2	MCF-7	breast:
3	chr15:93385510..93388463-chr15:93423179..93425134,2	K562	blood:
4	chr15:93385940..93388443-chr15:93390069..93391852,2	K562	blood:
5	chr15:93384618..93388316-chr15:93447522..93450262,3	K562	blood:
6	chr15:93384664..93389325-chr15:93424657..93427477,4	MCF-7	breast:
7	chr15:93383122..93385870-chr15:93386846..93388717,2	MCF-7	breast:
8	chr15:93386562..93388082-chr15:93408982..93411962,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264173	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000272888	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11074108	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11074109	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11074110	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11074111	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12591890	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12592319	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28360722	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28445686	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28613292	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28734059	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4408491	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4628913	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4777740	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4777741	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4777742	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4778045	0.93[AMR][1000 genomes]
rs6496994	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66967198	0.96[ASN][1000 genomes]
rs7184028	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8026478	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8027176	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8027321	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8028071	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8029902	0.91[CEU][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8030383	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8031154	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8031163	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
5	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8023522	C15orf58	cis	cerebellum	SCAN
rs8023522	MRPS11	cis	parietal	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93377200-93388000	Weak transcription	Brain Angular Gyrus	brain
2	chr15:93383400-93388200	Weak transcription	Brain Hippocampus Middle	brain
3	chr15:93383400-93390400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:93383600-93387800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:93383600-93388000	Weak transcription	Brain Anterior Caudate	brain
6	chr15:93383600-93388000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:93383600-93388000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:93383600-93388000	Weak transcription	Small Intestine	intestine
9	chr15:93383600-93388200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:93383600-93388200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr15:93383800-93388000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:93383800-93388000	Weak transcription	Gastric	stomach
13	chr15:93383800-93388200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:93383800-93388200	Weak transcription	HMEC	breast
15	chr15:93383800-93388200	Weak transcription	K562	blood
16	chr15:93383800-93389200	Weak transcription	Lung	lung
17	chr15:93383800-93396600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:93384000-93388000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr15:93384000-93388000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:93384000-93388000	Weak transcription	GM12878-XiMat	blood
21	chr15:93384000-93388200	Weak transcription	NHEK	skin
22	chr15:93384000-93389200	Weak transcription	Pancreas	Pancrea
23	chr15:93384000-93394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:93384200-93388000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:93384200-93389200	Weak transcription	Esophagus	oesophagus
26	chr15:93384800-93391800	Weak transcription	Placenta	Placenta
27	chr15:93385400-93388200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr15:93385600-93388000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr15:93385600-93388800	Enhancers	Thymus	Thymus
30	chr15:93385800-93388200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:93386000-93388000	Enhancers	Primary T cells from cord blood	blood
32	chr15:93386000-93388000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr15:93386000-93388000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:93386000-93388400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr15:93386000-93389600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:93386000-93389600	Enhancers	Fetal Thymus	thymus
37	chr15:93386200-93387800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr15:93386200-93388200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:93386200-93390600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr15:93386400-93388000	Enhancers	Dnd41	blood
41	chr15:93386400-93388000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr15:93386600-93387400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr15:93386600-93387400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:93386600-93387400	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr15:93386600-93387400	Enhancers	Spleen	Spleen
46	chr15:93386600-93387400	Enhancers	HSMM	muscle
47	chr15:93386600-93388000	Enhancers	Primary B cells from cord blood	blood
48	chr15:93386600-93388000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:93386600-93388200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:93386600-93388200	Enhancers	Fetal Muscle Trunk	muscle

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