Variant report

Variant	rs62137048
Chromosome Location	chr2:48665599-48665600
allele	C/G
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	SPI1	chr2:48665353-48665721	GM12891	blood:	n/a	n/a
2	EP300	chr2:48665456-48665705	GM12878	blood:	n/a	n/a
3	CUX1	chr2:48665434-48665827	GM12878	blood:	n/a	n/a
4	SPI1	chr2:48665412-48665705	GM12878	blood:	n/a	n/a
5	SPI1	chr2:48665458-48665695	GM12878	blood:	n/a	n/a
6	SPI1	chr2:48665422-48665711	GM12891	blood:	n/a	n/a
7	RUNX3	chr2:48665311-48665784	GM12878	blood:	n/a	n/a
8	RUNX3	chr2:48665324-48665811	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48398522..48400210-chr2:48663770..48666421,2	K562	blood:
2	chr2:48337671..48340205-chr2:48664640..48667465,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R21	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11125171	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62137026	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62138815	0.83[AFR][1000 genomes]
rs62138816	0.83[AFR][1000 genomes]
rs62138864	0.83[AMR][1000 genomes]
rs72820413	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48661000-48667200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:48661400-48666800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:48661600-48666400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:48661600-48666400	Weak transcription	Fetal Lung	lung
5	chr2:48661600-48666600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:48661600-48667000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:48661800-48667000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:48662200-48666600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:48662200-48667000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:48662200-48667000	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:48662600-48667000	Weak transcription	Liver	Liver
12	chr2:48663400-48667000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:48663400-48667000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:48663600-48667000	Weak transcription	NH-A	brain
15	chr2:48663800-48667000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:48664000-48667000	Weak transcription	K562	blood
17	chr2:48665000-48666200	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:48665000-48666800	Enhancers	GM12878-XiMat	blood
19	chr2:48665000-48667000	Enhancers	Primary B cells from cord blood	blood
20	chr2:48665200-48666400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:48665200-48666400	Enhancers	Monocytes-CD14+_RO01746	blood

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