Variant report

Variant	rs60689496
Chromosome Location	chr3:142882590-142882591
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	TEAD4	chr3:142882441-142882773	K562	blood:	n/a	n/a
2	SPI1	chr3:142882420-142882723	GM12878	blood:	n/a	n/a
3	GATA2	chr3:142882462-142882780	K562	blood:	n/a	n/a
4	TAL1	chr3:142882481-142882800	K562	blood:	n/a	n/a
5	SPI1	chr3:142882432-142882749	GM12891	blood:	n/a	n/a
6	SPI1	chr3:142882469-142882744	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142878953..142880947-chr3:142881192..142883078,2	K562	blood:
2	chr3:142863143..142865684-chr3:142879611..142883085,3	K562	blood:

Variant related genes	Relation type
ENSG00000211483	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73866406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73866407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73866410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73868257	0.89[AFR][1000 genomes];1.00[AMR][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	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription 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
6	nsv529013	chr3:142877227-142888043	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142877800-142884200	Weak transcription	Osteobl	bone
2	chr3:142877800-142886000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:142878200-142884200	Weak transcription	NHDF-Ad	bronchial
4	chr3:142879600-142882600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:142879600-142882600	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:142879600-142886600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:142879800-142884000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:142880400-142882800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr3:142881200-142888600	Enhancers	Primary T cells from cord blood	blood
10	chr3:142881800-142882600	Enhancers	Adipose Nuclei	Adipose
11	chr3:142881800-142883000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr3:142881800-142885200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:142882000-142882800	Enhancers	GM12878-XiMat	blood
14	chr3:142882000-142884200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr3:142882000-142884800	Enhancers	Fetal Lung	lung
16	chr3:142882000-142885000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:142882000-142888400	Enhancers	Dnd41	blood
18	chr3:142882000-142891600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:142882200-142882800	Enhancers	Fetal Stomach	stomach
20	chr3:142882200-142883000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:142882200-142883000	Enhancers	K562	blood
22	chr3:142882200-142883600	Enhancers	Primary B cells from cord blood	blood
23	chr3:142882200-142883600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:142882200-142884400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:142882200-142884600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr3:142882200-142889000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr3:142882400-142883000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr3:142882400-142883000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:142882400-142883000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr3:142882400-142883000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:142882400-142883200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr3:142882400-142885200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr3:142882400-142889600	Enhancers	Fetal Thymus	thymus

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