Variant report

Variant	rs71110312
Chromosome Location	chr15:56001598-56001599
allele	-/CT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:55999212..56002187-chr15:56002535..56005637,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10518817	0.86[AMR][1000 genomes]
rs10851591	0.90[ASN][1000 genomes]
rs11630141	0.87[ASN][1000 genomes]
rs12373006	0.82[ASN][1000 genomes]
rs12438177	0.81[ASN][1000 genomes]
rs12591246	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12592192	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12594642	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12903822	0.81[ASN][1000 genomes]
rs1371056	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1530087	0.87[AMR][1000 genomes]
rs16976450	0.82[AMR][1000 genomes]
rs16976472	0.93[ASN][1000 genomes]
rs2008336	0.89[ASN][1000 genomes]
rs2414424	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2414426	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2414427	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28485308	0.82[ASN][1000 genomes]
rs28575567	0.82[ASN][1000 genomes]
rs4774802	0.89[ASN][1000 genomes]
rs4774803	0.89[ASN][1000 genomes]
rs572531	0.83[AMR][1000 genomes]
rs62043869	0.86[AMR][1000 genomes]
rs62043871	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62043872	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493805	0.82[AMR][1000 genomes]
rs6493809	0.84[ASN][1000 genomes]
rs715321	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7161967	0.83[ASN][1000 genomes]
rs7162371	0.90[ASN][1000 genomes]
rs7162879	0.93[ASN][1000 genomes]
rs7180112	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7181212	0.81[ASN][1000 genomes]
rs8023911	0.82[ASN][1000 genomes]
rs8031192	0.81[AMR][1000 genomes]
rs8034414	0.87[ASN][1000 genomes]
rs8037136	0.82[ASN][1000 genomes]
rs8042029	0.84[ASN][1000 genomes]
rs9920076	0.80[AMR][1000 genomes]
rs9920262	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	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
7	nsv833017	chr15:55965957-56157912	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55993000-56003200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:55996200-56015000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr15:55996400-56003400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:55996400-56007600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:55996600-56004800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:55996600-56005400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:55996800-56002200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:55997000-56002200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:55999000-56005000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:55999200-56001800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:55999800-56028000	Weak transcription	Fetal Kidney	kidney
12	chr15:56000800-56001800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:56001000-56007600	Weak transcription	Hela-S3	cervix
14	chr15:56001200-56001800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:56001200-56007600	Weak transcription	HepG2	liver
16	chr15:56001400-56002600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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