Variant report

Variant	rs72761312
Chromosome Location	chr5:53122020-53122021
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	chr5:53120225..53123189-chr5:53123682..53125312,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10471385	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738715	1.00[ASN][1000 genomes]
rs11747933	1.00[ASN][1000 genomes]
rs1388112	1.00[ASN][1000 genomes]
rs1504213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17250294	1.00[ASN][1000 genomes]
rs2035769	1.00[ASN][1000 genomes]
rs4604144	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55846014	1.00[ASN][1000 genomes]
rs56245000	1.00[ASN][1000 genomes]
rs62372372	1.00[ASN][1000 genomes]
rs62372373	1.00[ASN][1000 genomes]
rs62372374	1.00[ASN][1000 genomes]
rs62372375	1.00[ASN][1000 genomes]
rs62372376	1.00[ASN][1000 genomes]
rs62372391	1.00[ASN][1000 genomes]
rs6898965	1.00[ASN][1000 genomes]
rs72750220	1.00[ASN][1000 genomes]
rs72759303	1.00[ASN][1000 genomes]
rs72759306	1.00[ASN][1000 genomes]
rs72759309	1.00[ASN][1000 genomes]
rs72759312	1.00[ASN][1000 genomes]
rs72759313	1.00[ASN][1000 genomes]
rs72759314	1.00[ASN][1000 genomes]
rs72759388	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759389	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759390	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759397	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759399	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761303	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761304	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761339	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763106	1.00[ASN][1000 genomes]
rs72763114	1.00[ASN][1000 genomes]
rs72763115	1.00[ASN][1000 genomes]
rs72763116	1.00[ASN][1000 genomes]
rs72763118	1.00[ASN][1000 genomes]
rs72763119	1.00[ASN][1000 genomes]
rs72763127	1.00[ASN][1000 genomes]
rs72763129	1.00[ASN][1000 genomes]
rs72763130	1.00[ASN][1000 genomes]
rs72763131	1.00[ASN][1000 genomes]
rs72763132	1.00[ASN][1000 genomes]
rs72763133	1.00[ASN][1000 genomes]
rs72763135	1.00[ASN][1000 genomes]
rs72763156	1.00[ASN][1000 genomes]
rs72763157	1.00[ASN][1000 genomes]
rs7737026	1.00[ASN][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	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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
3	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv830298	chr5:52973912-53193398	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv533778	chr5:53092696-53284566	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1019194	chr5:53104869-53178957	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53121200-53122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:53121200-53122200	Weak transcription	Ovary	ovary
3	chr5:53121400-53122200	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:53121400-53123200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:53122000-53122800	Enhancers	Fetal Muscle Trunk	muscle
6	chr5:53122000-53123400	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links