Variant report

Variant	rs7171244
Chromosome Location	chr15:39742977-39742978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:39742666..39745111-chr15:39746881..39749174,2	K562	blood:
2	chr15:39463804..39465395-chr15:39742405..39744124,2	MCF-7	breast:
3	chr15:39719354..39722131-chr15:39742373..39743921,2	K562	blood:
4	chr15:39741167..39743297-chr15:39871792..39873904,2	MCF-7	breast:
5	chr15:39739658..39743220-chr15:39872774..39876303,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137801	Chromatin interaction
ENSG00000259345	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11070204	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1158918	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11633970	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11857561	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12438465	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593294	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12899217	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1551945	0.82[MEX][hapmap]
rs16952151	0.82[MEX][hapmap]
rs16969038	0.82[MEX][hapmap]
rs1812583	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1947782	0.82[ASN][1000 genomes]
rs1993892	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1993893	0.89[ASN][1000 genomes]
rs2086166	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2127029	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2411293	0.93[CEU][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34329697	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4244571	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4486853	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4924361	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4924363	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5028679	0.82[MEX][hapmap]
rs59431794	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60697424	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6492888	0.93[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7178351	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	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7350779	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]
rs74008200	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74010438	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8030260	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8032900	0.89[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs8033214	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9888722	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920539	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][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	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
9	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv3419623	chr15:39742460-39746758	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7171244	AQR	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39727200-39746800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr15:39740000-39759400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:39740400-39745400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:39740400-39745400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr15:39740400-39747200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:39740800-39745400	Weak transcription	GM12878-XiMat	blood
7	chr15:39742400-39743000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr15:39742400-39744200	Enhancers	Fetal Stomach	stomach
9	chr15:39742400-39744400	Enhancers	Fetal Lung	lung
10	chr15:39742400-39744600	Enhancers	Rectal Smooth Muscle	rectum
11	chr15:39742600-39743000	Enhancers	Fetal Muscle Leg	muscle
12	chr15:39742600-39744200	Enhancers	Colon Smooth Muscle	Colon
13	chr15:39742800-39743000	Enhancers	Lung	lung
14	chr15:39742800-39743200	Weak transcription	Small Intestine	intestine
15	chr15:39742800-39744200	Enhancers	Rectal Mucosa Donor 31	rectum

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