Variant report

Variant	rs1675530
Chromosome Location	chr3:98313737-98313738
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	MAFK	chr3:98313521-98314148	K562	blood:	n/a	n/a
2	MAZ	chr3:98313734-98313887	GM12878	blood:	n/a	n/a
3	SPI1	chr3:98313476-98313806	HL-60	blood:	n/a	chr3:98313564-98313577
4	RCOR1	chr3:98313642-98313984	K562	blood:	n/a	n/a
5	POLR2A	chr3:98313474-98314011	GM12878	blood:	n/a	n/a
6	SPI1	chr3:98313328-98313742	HL-60	blood:	n/a	chr3:98313564-98313577
7	RCOR1	chr3:98313575-98314171	K562	blood:	n/a	n/a
8	CUX1	chr3:98313501-98314054	K562	blood:	n/a	n/a
9	POLR2A	chr3:98313352-98314055	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:98303079..98305719-chr3:98311231..98314146,3	K562	blood:
2	chr3:98303079..98306972-chr3:98311108..98314146,5	K562	blood:
3	chr3:98307277..98308985-chr3:98312690..98314425,2	K562	blood:

Variant related genes	Relation type
CPOX	TF binding region
ENSG00000080819	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1729991	1.00[AMR][1000 genomes]
rs57266345	1.00[AMR][1000 genomes]
rs59684850	1.00[AMR][1000 genomes]
rs61642998	1.00[AMR][1000 genomes]
rs72930963	1.00[AMR][1000 genomes]
rs72930970	1.00[AMR][1000 genomes]
rs72930975	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528056	chr3:98101101-98317836	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv520503	chr3:98102801-98317836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv997484	chr3:98284283-98371420	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv536661	chr3:98286588-98315764	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98313000-98314400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:98313000-98317000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:98313000-98321400	Enhancers	Liver	Liver
4	chr3:98313200-98313800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:98313200-98314000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:98313200-98314200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:98313200-98314400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:98313200-98314600	Enhancers	GM12878-XiMat	blood
9	chr3:98313200-98314800	Enhancers	HepG2	liver
10	chr3:98313200-98315600	Weak transcription	Thymus	Thymus
11	chr3:98313200-98316000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:98313200-98316000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:98313200-98316600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:98313200-98317000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:98313200-98321200	Weak transcription	Fetal Thymus	thymus
16	chr3:98313200-98322600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:98313400-98313800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:98313400-98314000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:98313400-98314000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:98313400-98316400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:98313400-98317200	Weak transcription	Adipose Nuclei	Adipose
22	chr3:98313600-98314000	Flanking Active TSS	K562	blood
23	chr3:98313600-98315800	Weak transcription	Dnd41	blood
24	chr3:98313600-98317200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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