Variant report

Variant	rs12569847
Chromosome Location	chr10:50007753-50007754
allele	A/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	chr10:50007602-50008025	HL-60	blood:	n/a	chr10:50007895-50007908 chr10:50007837-50007850 chr10:50007898-50007905 chr10:50007839-50007848
2	SPI1	chr10:50007720-50007915	K562	blood:	n/a	chr10:50007895-50007908 chr10:50007837-50007850 chr10:50007898-50007905 chr10:50007839-50007848

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50001268..50003610-chr10:50006671..50009349,2	MCF-7	breast:

Variant related genes	Relation type
WDFY4	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11598288	0.82[EUR][1000 genomes]
rs12570942	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572349	0.82[EUR][1000 genomes]
rs2620899	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2620900	0.98[EUR][1000 genomes];1.00[ASN][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831865	chr10:49994254-50164239	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50000000-50008400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:50000400-50008400	Weak transcription	Colonic Mucosa	Colon
3	chr10:50001000-50008200	Weak transcription	Fetal Thymus	thymus
4	chr10:50001000-50012800	Weak transcription	Right Ventricle	heart
5	chr10:50001200-50009400	Weak transcription	Fetal Muscle Leg	muscle
6	chr10:50001600-50008200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr10:50002600-50008400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:50002800-50008400	Weak transcription	Liver	Liver
9	chr10:50003000-50008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:50003000-50008400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:50003000-50009400	Weak transcription	Left Ventricle	heart
12	chr10:50003200-50008400	Weak transcription	HMEC	breast
13	chr10:50004000-50011000	Weak transcription	Lung	lung
14	chr10:50005200-50008400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr10:50005200-50008400	Weak transcription	Spleen	Spleen
16	chr10:50005200-50026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:50005400-50011000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:50005600-50008200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:50006000-50008400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr10:50006400-50008200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr10:50006600-50010400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr10:50006600-50010800	Genic enhancers	GM12878-XiMat	blood
23	chr10:50006800-50007800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:50007000-50009000	Enhancers	Primary B cells from peripheral blood	blood
25	chr10:50007000-50012800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:50007200-50007800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr10:50007200-50008200	Weak transcription	HUVEC	blood vessel
28	chr10:50007200-50008400	Weak transcription	Adipose Nuclei	Adipose
29	chr10:50007200-50008400	Weak transcription	NHEK	skin
30	chr10:50007200-50014600	Weak transcription	NHLF	lung
31	chr10:50007200-50017200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:50007600-50008000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:50007600-50008400	Enhancers	Primary B cells from cord blood	blood
34	chr10:50007600-50013000	Enhancers	Primary T cells fromperipheralblood	blood

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