Variant report

Variant	rs7269538
Chromosome Location	chr20:1473160-1473161
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	EBF1	chr20:1473027-1473314	GM12878	blood:	n/a	chr20:1473157-1473168
2	SPI1	chr20:1472949-1473314	HL-60	blood:	n/a	n/a
3	SPI1	chr20:1472880-1473216	GM12878	blood:	n/a	n/a
4	SPI1	chr20:1471867-1473336	HL-60	blood:	n/a	chr20:1472270-1472283
5	EBF1	chr20:1473004-1473325	GM12878	blood:	n/a	chr20:1473157-1473168
6	SPI1	chr20:1472915-1473216	GM12891	blood:	n/a	n/a
7	SPI1	chr20:1472772-1473415	GM12878	blood:	n/a	n/a
8	SPI1	chr20:1472839-1473298	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
SIRPB2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs41310149	0.83[ASN][1000 genomes]
rs6110188	0.87[ASN][1000 genomes]
rs7265470	0.91[ASN][1000 genomes]
rs7267351	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs7268022	0.91[ASN][1000 genomes]
rs8115674	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv833893	chr20:1414615-1527779	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr20:1469800-1474000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr20:1470000-1473200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr20:1471400-1473400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:1471600-1475800	Enhancers	Primary B cells from peripheral blood	blood
5	chr20:1471600-1478400	Weak transcription	NHEK	skin
6	chr20:1471600-1478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr20:1471800-1474000	Enhancers	Fetal Thymus	thymus
8	chr20:1472200-1473200	Enhancers	Placenta	Placenta
9	chr20:1472200-1476000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr20:1472400-1475600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr20:1472400-1476000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr20:1472600-1475000	Enhancers	Primary hematopoietic stem cells	blood
13	chr20:1472600-1475400	Enhancers	Primary T cells from cord blood	blood
14	chr20:1472600-1476200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr20:1472800-1473200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr20:1473000-1473200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr20:1473000-1473800	Enhancers	HUVEC	blood vessel
18	chr20:1473000-1474200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr20:1473000-1476000	Enhancers	Primary B cells from cord blood	blood
20	chr20:1473000-1476000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:1473000-1479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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