Variant report

Variant	rs59313491
Chromosome Location	chr15:57198811-57198812
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57197545..57200478-chr15:57209928..57211970,2	K562	blood:

Variant related genes	Relation type
ENSG00000140262	Chromatin interaction
ENSG00000137871	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1430821	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1642932	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1642938	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1652734	0.94[ASN][1000 genomes]
rs1652735	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1652736	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1657925	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116064	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213145	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213146	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213157	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs213158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213159	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213161	1.00[AMR][1000 genomes]
rs213169	1.00[ASN][1000 genomes]
rs2566843	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2576928	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2585084	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2585117	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2585118	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4494480	1.00[AMR][1000 genomes]
rs56235870	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56683633	1.00[AMR][1000 genomes]
rs56804967	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57344548	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57452003	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57813422	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57849686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57968080	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60268394	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs604191	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161894	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162421	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7170742	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175983	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73409264	0.80[AFR][1000 genomes]
rs73411246	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413325	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73413333	1.00[AMR][1000 genomes]
rs73413352	1.00[AMR][1000 genomes]
rs73413365	1.00[AMR][1000 genomes]
rs74018446	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74018485	1.00[AMR][1000 genomes]
rs8025829	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8037469	0.87[ASN][1000 genomes]
rs8040423	1.00[ASN][1000 genomes]
rs8043301	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57180200-57208000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr15:57181600-57204000	Weak transcription	Thymus	Thymus
3	chr15:57182000-57209200	Weak transcription	Fetal Stomach	stomach
4	chr15:57182600-57204200	Weak transcription	Fetal Thymus	thymus
5	chr15:57191800-57208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:57194400-57208600	Weak transcription	Left Ventricle	heart
7	chr15:57195400-57199400	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:57195600-57199400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:57196000-57205800	Weak transcription	HSMMtube	muscle
10	chr15:57196200-57199200	Weak transcription	Stomach Mucosa	stomach
11	chr15:57196200-57207800	Weak transcription	Fetal Brain Female	brain
12	chr15:57197600-57207200	Weak transcription	Fetal Muscle Leg	muscle
13	chr15:57198000-57199200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:57198200-57199000	Enhancers	NHEK	skin
15	chr15:57198800-57199000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:57198800-57199000	Enhancers	Brain Germinal Matrix	brain
17	chr15:57198800-57199200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:57198800-57199400	Enhancers	HMEC	breast
19	chr15:57198800-57199600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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