Variant report

Variant	rs4486853
Chromosome Location	chr15:39738469-39738470
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39733381..39735588-chr15:39737180..39739166,2	MCF-7	breast:
2	chr15:39733791..39736088-chr15:39738338..39740014,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11070204	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1158918	0.92[EUR][1000 genomes]
rs11631986	0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs11633970	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11857561	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12438465	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12593294	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12899217	0.91[EUR][1000 genomes]
rs1812583	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1993892	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2086166	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2127029	1.00[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2411293	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs34329697	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4244571	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4533261	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs4924350	0.80[AFR][1000 genomes]
rs4924361	0.89[EUR][1000 genomes]
rs4924363	0.83[EUR][1000 genomes]
rs59431794	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60697424	0.91[EUR][1000 genomes]
rs6492888	1.00[CEU][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7171244	0.93[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7178351	1.00[CEU][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7180041	1.00[CEU][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7350779	1.00[CEU][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74008200	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74010438	0.90[EUR][1000 genomes]
rs8030260	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8033214	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8040790	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs9888722	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9920130	0.81[AFR][1000 genomes]
rs9920539	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:13 , 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	chr15:39727800-39740200	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:39728400-39739400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:39731600-39739400	Weak transcription	HepG2	liver
5	chr15:39734800-39739400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:39737200-39740200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:39737200-39742800	Weak transcription	Lung	lung
8	chr15:39737400-39739000	Enhancers	Thymus	Thymus
9	chr15:39737400-39739200	Enhancers	Fetal Thymus	thymus
10	chr15:39737400-39742400	Weak transcription	Fetal Stomach	stomach
11	chr15:39737600-39739400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:39737600-39742400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:39737800-39742600	Weak transcription	Colon Smooth Muscle	Colon

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