Variant report

Variant	rs7178351
Chromosome Location	chr15:39730154-39730155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:39719049..39721581-chr15:39729488..39731125,2	MCF-7	breast:
2	chr15:39560119..39564394-chr15:39727167..39731091,3	MCF-7	breast:
3	chr15:39462704..39465639-chr15:39730089..39732672,2	MCF-7	breast:
4	chr15:39728845..39734958-chr15:39871002..39874782,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259345	Chromatin interaction
ENSG00000137801	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11070204	1.00[CEU][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1158918	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11633970	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11857561	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438465	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12593294	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12899217	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1551945	0.82[MEX][hapmap]
rs16952151	0.82[MEX][hapmap]
rs16969038	0.82[MEX][hapmap]
rs1812583	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1947782	0.87[ASN][1000 genomes]
rs1993892	0.87[ASN][1000 genomes]
rs1993893	0.84[ASN][1000 genomes]
rs2086166	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2127029	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2411293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34329697	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4244571	1.00[CEU][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4486853	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4924361	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4924363	0.87[ASN][1000 genomes]
rs5028679	0.82[MEX][hapmap]
rs59431794	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60697424	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6492888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171244	0.93[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7180041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7350779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74008200	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74010438	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8030260	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8032900	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs8033214	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888722	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9920539	0.90[EUR][1000 genomes];0.87[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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1042824	chr15:39676039-39757222	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv542362	chr15:39676039-39757222	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1052908	chr15:39692049-39750193	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1044082	chr15:39693241-39750193	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1036091	chr15:39699841-39750193	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7178351	AQR	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39722800-39730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:39723800-39731200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:39725800-39730600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:39725800-39730600	Weak transcription	Fetal Thymus	thymus
5	chr15:39725800-39731200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:39725800-39731200	Weak transcription	Spleen	Spleen
7	chr15:39726000-39730400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:39727200-39730800	Weak transcription	Small Intestine	intestine
9	chr15:39727200-39736600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr15:39727200-39746800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:39727400-39730600	Weak transcription	Lung	lung
12	chr15:39727400-39730600	Weak transcription	Ovary	ovary
13	chr15:39727400-39731200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr15:39727800-39730400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr15:39727800-39740200	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:39728000-39730400	Weak transcription	Adipose Nuclei	Adipose
17	chr15:39728200-39731400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:39728400-39739400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:39728800-39730600	Weak transcription	HepG2	liver
20	chr15:39728800-39731200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:39728800-39734000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:39729800-39730600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:39729800-39731200	Enhancers	Fetal Heart	heart
24	chr15:39730000-39731000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr15:39730000-39731600	Enhancers	Left Ventricle	heart
26	chr15:39730000-39731600	Enhancers	Right Ventricle	heart

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