Variant report

Variant	rs8027604
Chromosome Location	chr15:75447773-75447774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75444598..75448715-chr15:75454020..75457057,3	MCF-7	breast:
2	chr15:75446676..75449374-chr15:75464982..75466501,2	MCF-7	breast:
3	chr15:75447167..75449723-chr15:75491839..75495172,3	MCF-7	breast:
4	chr15:75441576..75444367-chr15:75445715..75448698,2	K562	blood:

Variant related genes	Relation type
ENSG00000167173	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1021382	0.94[ASN][1000 genomes]
rs10775208	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10851877	0.81[ASN][1000 genomes]
rs10851878	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072525	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11072526	0.97[ASN][1000 genomes]
rs11072528	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11638746	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12102035	0.96[ASN][1000 genomes]
rs12442392	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12442410	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12910348	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12914536	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12917185	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12917304	0.86[ASN][1000 genomes]
rs1602360	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1806793	0.95[ASN][1000 genomes]
rs1806794	0.95[ASN][1000 genomes]
rs2029519	0.89[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.94[ASN][1000 genomes]
rs2029520	0.94[ASN][1000 genomes]
rs2415158	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2415159	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28767543	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34511319	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4243032	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4288962	0.90[EUR][1000 genomes]
rs4334268	0.86[ASN][1000 genomes]
rs4421941	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4479194	0.95[ASN][1000 genomes]
rs4480765	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886420	0.81[ASN][1000 genomes]
rs4886422	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4886658	0.89[ASN][1000 genomes]
rs4886661	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4886667	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55662404	0.97[ASN][1000 genomes]
rs58201389	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59390721	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6495153	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6495154	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6495155	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6495158	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162055	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7162376	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7163083	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7166695	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7168020	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7169545	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7169867	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7172205	0.96[ASN][1000 genomes]
rs7172677	0.96[ASN][1000 genomes]
rs7177528	0.89[ASN][1000 genomes]
rs7178005	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7178625	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7178784	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7179426	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7181933	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72730601	0.96[ASN][1000 genomes]
rs8025412	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8026273	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8027552	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8028146	0.91[ASN][1000 genomes]
rs8029756	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8029760	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8032208	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8033754	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8035588	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8035789	0.92[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8027604	CYP11A1	cis	cerebellum	SCAN
rs8027604	SCAMP5	cis	cerebellum	SCAN
rs8027604	TBC1D21	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75438600-75448600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:75443600-75448000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:75443600-75448400	Enhancers	Primary hematopoietic stem cells	blood
4	chr15:75443800-75449400	Enhancers	Spleen	Spleen
5	chr15:75444000-75449000	Weak transcription	Lung	lung
6	chr15:75444200-75447800	Enhancers	HepG2	liver
7	chr15:75444600-75447800	Enhancers	Primary B cells from cord blood	blood
8	chr15:75444600-75448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:75445600-75448000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr15:75445800-75448600	Weak transcription	Hela-S3	cervix
11	chr15:75446000-75449600	Enhancers	GM12878-XiMat	blood
12	chr15:75446200-75449000	Weak transcription	A549	lung
13	chr15:75446400-75452000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr15:75446400-75453400	Weak transcription	Right Atrium	heart
15	chr15:75446600-75451200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:75446800-75451600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr15:75447000-75448600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:75447000-75449600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:75447400-75452000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr15:75447600-75447800	Enhancers	Fetal Thymus	thymus
21	chr15:75447600-75449000	Weak transcription	Stomach Mucosa	stomach

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