Variant report

Variant	rs11072528
Chromosome Location	chr15:75436455-75436456
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	chr15:75434234..75436652-chr15:75441017..75443733,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1021382	0.96[ASN][1000 genomes]
rs10775208	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10851877	0.83[ASN][1000 genomes]
rs10851878	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072525	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11072526	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11638746	0.88[ASN][1000 genomes]
rs12102035	0.98[ASN][1000 genomes]
rs12442392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442410	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910348	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12914536	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917185	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917304	0.88[ASN][1000 genomes]
rs1602360	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1806793	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1806794	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1806795	0.82[AMR][1000 genomes]
rs2029519	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[ASN][1000 genomes]
rs2029520	0.96[ASN][1000 genomes]
rs2415158	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2415159	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28767543	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34511319	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4243032	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4288962	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4334268	0.88[ASN][1000 genomes]
rs4421941	0.88[ASN][1000 genomes]
rs4479194	0.97[ASN][1000 genomes]
rs4480765	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886420	0.83[ASN][1000 genomes]
rs4886422	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4886658	0.91[ASN][1000 genomes]
rs4886661	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4886667	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886668	0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886669	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55662404	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs58201389	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59390721	0.88[ASN][1000 genomes]
rs6495153	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495154	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495155	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495158	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7162055	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7162376	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7163083	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7166695	0.88[ASN][1000 genomes]
rs7168020	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7169545	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169867	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172205	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7172677	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7177528	0.91[ASN][1000 genomes]
rs7178005	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178625	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178784	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7179426	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7179436	0.84[AMR][1000 genomes]
rs7181933	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730601	0.98[ASN][1000 genomes]
rs8025412	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026273	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8027552	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8027604	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8028146	0.92[ASN][1000 genomes]
rs8029756	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8029760	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032208	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8033754	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035588	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8035789	0.93[ASN][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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11072528	TBC1D21	cis	cerebellum	SCAN
rs11072528	CYP1A2	cis	cerebellum	SCAN
rs11072528	ULK3	cis	multi-tissue	Pritchard
rs11072528	SCAMP5	cis	cerebellum	SCAN
rs11072528	CYP11A1	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75434600-75437600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr15:75434800-75436600	ZNF genes & repeats	Liver	Liver
3	chr15:75434800-75436800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:75434800-75437000	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr15:75434800-75437600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
6	chr15:75434800-75438000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr15:75434800-75438400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:75434800-75438400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:75434800-75438400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr15:75435000-75436800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr15:75435000-75438800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr15:75435600-75443800	Weak transcription	Fetal Heart	heart
13	chr15:75436000-75437200	ZNF genes & repeats	Stomach Mucosa	stomach
14	chr15:75436000-75437600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:75436200-75438400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:75436200-75438600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:75436400-75436600	ZNF genes & repeats	Thymus	Thymus
18	chr15:75436400-75436800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr15:75436400-75436800	Enhancers	Hela-S3	cervix
20	chr15:75436400-75437200	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr15:75436400-75437200	Enhancers	HepG2	liver
22	chr15:75436400-75437800	ZNF genes & repeats	Dnd41	blood
23	chr15:75436400-75438200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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