Variant report

Variant	rs1552524
Chromosome Location	chr4:56476874-56476875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56471770..56474121-chr4:56475653..56477265,2	K562	blood:
2	chr4:56465744..56469712-chr4:56475129..56477433,3	K562	blood:
3	chr4:56466882..56469712-chr4:56475375..56477433,2	K562	blood:
4	chr4:56474369..56476951-chr4:56481028..56484786,4	K562	blood:
5	chr4:56472621..56475219-chr4:56475225..56477153,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10018565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10022874	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1027109	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10866426	0.90[EUR][1000 genomes]
rs13139886	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1387198	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1471981	0.90[EUR][1000 genomes]
rs1906674	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1906678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1963566	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2101473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2101474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412667	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4865019	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59494560	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61541312	0.90[EUR][1000 genomes]
rs6554294	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6554295	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6554296	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6843720	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7657199	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7659330	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7662646	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7681959	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56465400-56479400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:56469800-56481200	Weak transcription	Esophagus	oesophagus
3	chr4:56470400-56478800	Strong transcription	K562	blood
4	chr4:56473600-56491600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:56474600-56477200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:56475600-56478200	Enhancers	Fetal Thymus	thymus
7	chr4:56475600-56479000	Enhancers	HMEC	breast
8	chr4:56476200-56485000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:56476400-56478000	Weak transcription	Stomach Mucosa	stomach
10	chr4:56476400-56478000	Enhancers	NHEK	skin
11	chr4:56476400-56478600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:56476600-56478200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:56476800-56477800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:56476800-56478000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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