Variant report

Variant	rs2447713
Chromosome Location	chr15:55768094-55768095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11631285	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11855303	0.80[AFR][1000 genomes]
rs12911195	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12912400	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247458	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2414413	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444040	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444041	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444042	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28368404	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4553564	0.80[AFR][1000 genomes]
rs511132	1.00[YRI][hapmap]
rs537575	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs540393	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs550013	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551834	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs587049	0.83[AFR][1000 genomes]
rs593431	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59563514	1.00[AMR][1000 genomes]
rs596262	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs610286	1.00[AMR][1000 genomes]
rs61498471	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62019993	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs626248	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6493782	0.83[AFR][1000 genomes]
rs6493784	0.80[AFR][1000 genomes]
rs6493786	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs691062	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs691212	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs691514	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7163097	0.93[AFR][1000 genomes]
rs7169776	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs7174186	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7180824	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8024227	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8025982	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8029172	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1041635	chr15:55658171-55943942	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv904244	chr15:55687969-55770911	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
12	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv833016	chr15:55749169-55897906	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1049774	chr15:55759573-56044600	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55740000-55768400	Weak transcription	Pancreas	Pancrea
2	chr15:55749200-55778800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:55749600-55773600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr15:55750200-55778200	Weak transcription	Ovary	ovary
5	chr15:55756200-55790000	Weak transcription	Fetal Kidney	kidney
6	chr15:55757200-55773400	Weak transcription	Fetal Stomach	stomach
7	chr15:55760000-55772600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:55767600-55768200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:55767600-55768200	Flanking Active TSS	GM12878-XiMat	blood
10	chr15:55767600-55768600	Enhancers	Primary B cells from peripheral blood	blood
11	chr15:55767600-55769000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:55767800-55768600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr15:55767800-55768600	Enhancers	HSMMtube	muscle
14	chr15:55767800-55768800	Enhancers	Primary B cells from cord blood	blood
15	chr15:55767800-55768800	Enhancers	Primary hematopoietic stem cells	blood
16	chr15:55768000-55768600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:55768000-55768600	Enhancers	Monocytes-CD14+_RO01746	blood

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