Variant report

Variant	rs60868790
Chromosome Location	chr15:58540862-58540863
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:58540389-58540959	HL-60	blood:	n/a	n/a
2	MYC	chr15:58540184-58541177	NB4	blood:	n/a	chr15:58540653-58540663 chr15:58540672-58540682
3	MAX	chr15:58540110-58541193	NB4	blood:	n/a	chr15:58540653-58540663 chr15:58540672-58540682

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58540620..58543105-chr15:58543383..58546142,2	K562	blood:
2	chr15:58540767..58543419-chr15:58550091..58552048,2	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2414555	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2414556	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28372147	0.85[ASN][1000 genomes]
rs7173910	0.82[ASN][1000 genomes]
rs7177862	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72739104	0.83[ASN][1000 genomes]
rs935210	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1050473	chr15:58479888-58562270	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58524800-58547400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:58535000-58546200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:58537200-58542400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr15:58538200-58542400	Enhancers	Fetal Heart	heart
5	chr15:58538200-58542600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr15:58538400-58541200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:58539200-58541800	Enhancers	Placenta	Placenta
8	chr15:58539200-58541800	Weak transcription	Fetal Thymus	thymus
9	chr15:58539400-58541000	Enhancers	Lung	lung
10	chr15:58539400-58541200	Enhancers	Hela-S3	cervix
11	chr15:58539400-58542000	Enhancers	Left Ventricle	heart
12	chr15:58539600-58541200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr15:58539600-58541400	Enhancers	Right Ventricle	heart
14	chr15:58539800-58541000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr15:58539800-58541000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:58539800-58541200	Enhancers	Liver	Liver
17	chr15:58539800-58541600	Enhancers	Primary T cells from cord blood	blood
18	chr15:58540000-58541000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:58540000-58541800	Weak transcription	Right Atrium	heart
20	chr15:58540200-58541000	Weak transcription	Aorta	Aorta
21	chr15:58540200-58541000	Weak transcription	Psoas Muscle	Psoas
22	chr15:58540200-58541200	Enhancers	HSMMtube	muscle
23	chr15:58540600-58541000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:58540600-58541000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr15:58540600-58541200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:58540800-58541000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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