Variant report

Variant	rs4542601
Chromosome Location	chr15:58565099-58565100
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	chr15:58562484..58565368-chr15:58578132..58581112,2	K562	blood:
2	chr15:58559095..58562120-chr15:58564838..58568362,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12592326	0.80[AMR][1000 genomes]
rs12904030	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17240685	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1814867	0.84[AMR][1000 genomes]
rs2414561	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34149555	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34458264	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35348919	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62000520	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6493993	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7164378	0.80[AMR][1000 genomes]
rs7173510	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7178320	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7178332	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7178337	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7178779	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7179597	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7179609	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7179726	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7181607	0.80[AMR][1000 genomes]
rs7183294	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8033046	0.80[AMR][1000 genomes]
rs8040159	0.85[AMR][1000 genomes]
rs8042351	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv904264	chr15:58505122-58588510	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv904265	chr15:58517528-58588510	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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	50 gene(s)	inside rSNPs	diseases
7	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv569599	chr15:58563209-58579956	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58554200-58574400	Weak transcription	Left Ventricle	heart
2	chr15:58562800-58565400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:58564400-58567000	Weak transcription	Liver	Liver
4	chr15:58564400-58582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:58564600-58565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:58564600-58567200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:58564600-58571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:58564800-58574400	Weak transcription	A549	lung

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