Variant report

Variant	rs13356456
Chromosome Location	chr5:51953033-51953034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:50258485..50259404-chr5:51952536..51953715,3	K562	blood:
2	chr5:51948540..51950890-chr5:51952088..51953640,2	MCF-7	breast:
3	chr5:50258228..50259110-chr5:51952776..51953647,3	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10059225	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072067	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077122	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949933	1.00[ASN][1000 genomes]
rs11952014	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155491	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158962	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13358437	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450948	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1585698	1.00[ASN][1000 genomes]
rs2406194	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406195	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350415	1.00[ASN][1000 genomes]
rs350446	1.00[ASN][1000 genomes]
rs350447	1.00[ASN][1000 genomes]
rs350448	1.00[ASN][1000 genomes]
rs350449	1.00[ASN][1000 genomes]
rs350451	1.00[ASN][1000 genomes]
rs350454	1.00[ASN][1000 genomes]
rs350455	1.00[ASN][1000 genomes]
rs350456	1.00[ASN][1000 genomes]
rs350457	1.00[ASN][1000 genomes]
rs350459	1.00[ASN][1000 genomes]
rs350460	1.00[ASN][1000 genomes]
rs350462	1.00[ASN][1000 genomes]
rs351909	1.00[ASN][1000 genomes]
rs35422331	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35949279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36040466	1.00[ASN][1000 genomes]
rs588159	1.00[ASN][1000 genomes]
rs588665	1.00[ASN][1000 genomes]
rs601743	1.00[ASN][1000 genomes]
rs606704	1.00[ASN][1000 genomes]
rs619148	1.00[ASN][1000 genomes]
rs62358666	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62358702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634323	1.00[ASN][1000 genomes]
rs636028	1.00[ASN][1000 genomes]
rs638304	1.00[ASN][1000 genomes]
rs646638	1.00[ASN][1000 genomes]
rs647974	1.00[ASN][1000 genomes]
rs648894	1.00[ASN][1000 genomes]
rs649787	1.00[ASN][1000 genomes]
rs650009	1.00[ASN][1000 genomes]
rs650310	1.00[ASN][1000 genomes]
rs652181	1.00[ASN][1000 genomes]
rs654854	1.00[ASN][1000 genomes]
rs655137	1.00[ASN][1000 genomes]
rs662516	1.00[ASN][1000 genomes]
rs667698	1.00[ASN][1000 genomes]
rs669512	1.00[ASN][1000 genomes]
rs676843	1.00[ASN][1000 genomes]
rs677349	1.00[ASN][1000 genomes]
rs678501	1.00[ASN][1000 genomes]
rs682160	1.00[ASN][1000 genomes]
rs71633440	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752072	chr5:51649222-51972277	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong 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 target site	28 gene(s)	inside rSNPs	diseases
3	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv965617	chr5:51951351-51955270	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:51951600-51956000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:51952400-51953200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:51952800-51953200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:51952800-51953200	Enhancers	Primary T cells from cord blood	blood
5	chr5:51952800-51953200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:51952800-51953200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:51952800-51953200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr5:51952800-51953200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr5:51952800-51953200	Enhancers	Brain Hippocampus Middle	brain
10	chr5:51952800-51953200	Enhancers	Brain Substantia Nigra	brain
11	chr5:51952800-51953200	Enhancers	Colon Smooth Muscle	Colon
12	chr5:51952800-51954600	Enhancers	Dnd41	blood
13	chr5:51953000-51953200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:51953000-51953200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:51953000-51953200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:51953000-51953200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:51953000-51953200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:51953000-51953200	Enhancers	Brain Anterior Caudate	brain
19	chr5:51953000-51953200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:51953000-51953200	Bivalent Enhancer	Fetal Kidney	kidney

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