Variant report

Variant	rs3784588
Chromosome Location	chr15:31294654-31294655
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	chr15:31281475..31285433-chr15:31293926..31297603,3	K562	blood:
2	chr15:31283942..31285617-chr15:31294497..31297263,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166912	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10163148	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs10519726	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs11070678	0.83[CHB][hapmap]
rs1133642	0.82[CHB][hapmap]
rs12437677	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12441456	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12442021	0.96[ASN][1000 genomes]
rs12442333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12442823	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474381	0.83[CHB][hapmap]
rs1474382	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs16956341	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16956362	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16956366	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16956414	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16956422	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16956460	0.93[ASN][1000 genomes]
rs17815804	1.00[CHD][hapmap]
rs2042613	0.83[CHD][hapmap]
rs2113945	0.83[CHB][hapmap];0.94[CHD][hapmap]
rs2272218	0.83[CHB][hapmap];0.88[CHD][hapmap]
rs2272219	0.83[CHB][hapmap]
rs2293319	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs2293320	0.83[CHB][hapmap];0.88[CHD][hapmap]
rs28487996	0.96[ASN][1000 genomes]
rs28693590	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs2949575	0.83[CHB][hapmap]
rs2949576	0.83[CHB][hapmap];0.88[CHD][hapmap]
rs2949578	0.83[CHB][hapmap];0.88[CHD][hapmap]
rs2955787	0.83[CHB][hapmap]
rs2955791	0.83[CHB][hapmap]
rs2959049	0.83[CHB][hapmap]
rs36042462	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3743231	0.83[CHB][hapmap];0.88[CHD][hapmap]
rs3743232	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4779796	0.83[CHB][hapmap]
rs4779797	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs6493358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7161812	0.82[CHB][hapmap]
rs7164939	1.00[CHB][hapmap]
rs7169064	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs7175354	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7175951	0.83[CHB][hapmap];0.88[CHD][hapmap]
rs7176351	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs7178375	0.83[CHB][hapmap]
rs7178533	0.83[CHB][hapmap]
rs73368444	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8041717	0.83[CHB][hapmap];0.88[CHD][hapmap]
rs871312	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs872843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs964925	0.91[CHB][hapmap]
rs9806159	0.83[CHB][hapmap];0.83[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers 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	84 gene(s)	inside rSNPs	diseases
5	nsv1046874	chr15:31008133-31294654	Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
10	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv832952	chr15:31204426-31333998	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 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	chr15:31285000-31294800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:31291800-31308000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:31292800-31296200	Enhancers	Primary B cells from peripheral blood	blood
4	chr15:31293200-31294800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:31293600-31298400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:31294200-31296600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:31294400-31295400	Weak transcription	GM12878-XiMat	blood
8	chr15:31294400-31296200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:31294600-31294800	Enhancers	Placenta	Placenta
10	chr15:31294600-31295000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:31294600-31296200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:31294600-31296200	Weak transcription	HMEC	breast
13	chr15:31294600-31298600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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