Variant report

Variant	rs73638344
Chromosome Location	chr9:1980275-1980276
allele	C/T
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	MAZ	chr9:1979691-1981091	IMR90	lung:	n/a	n/a
2	EP300	chr9:1979861-1980356	GM12878	blood:	n/a	n/a
3	EP300	chr9:1979907-1980329	GM12878	blood:	n/a	n/a
4	IKZF1	chr9:1979905-1980288	GM12878	blood:	n/a	n/a
5	RUNX3	chr9:1979949-1980330	GM12878	blood:	n/a	chr9:1980223-1980232
6	EBF1	chr9:1979984-1980742	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000224092	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73638360	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016148	chr9:1457605-2361750	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active 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	17 gene(s)	inside rSNPs	diseases
2	nsv539916	chr9:1457605-2361750	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1021712	chr9:1647840-2216839	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv539921	chr9:1647840-2216839	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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 target site	14 gene(s)	inside rSNPs	diseases
5	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv831493	chr9:1885733-2074135	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv892047	chr9:1888703-2018825	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv892048	chr9:1888703-2177391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv892050	chr9:1928694-1992516	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv892051	chr9:1945517-2008021	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1021158	chr9:1963930-2040728	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1976800-1981400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr9:1977600-1980600	Enhancers	Fetal Stomach	stomach
3	chr9:1978200-1981600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:1978600-1980800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr9:1978800-1980600	Flanking Active TSS	Fetal Lung	lung
6	chr9:1978800-1980600	Enhancers	HMEC	breast
7	chr9:1979000-1980400	Enhancers	Fetal Heart	heart
8	chr9:1979000-1980400	Enhancers	Stomach Smooth Muscle	stomach
9	chr9:1979000-1980400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr9:1979000-1980600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr9:1979000-1980800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr9:1979000-1980800	Enhancers	NHLF	lung
13	chr9:1979000-1980800	Enhancers	Osteobl	bone
14	chr9:1979000-1981000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:1979000-1981000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:1979000-1981000	Enhancers	Left Ventricle	heart
17	chr9:1979000-1981000	Enhancers	HSMM	muscle
18	chr9:1979000-1982000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:1979200-1980400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:1979200-1980400	Enhancers	Fetal Brain Female	brain
21	chr9:1979200-1980400	Enhancers	HSMMtube	muscle
22	chr9:1979200-1980600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:1979200-1980800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:1979200-1980800	Enhancers	Fetal Kidney	kidney
25	chr9:1979600-1980400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:1979600-1980800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr9:1979800-1980400	Enhancers	NHEK	skin
28	chr9:1980000-1980400	Enhancers	GM12878-XiMat	blood
29	chr9:1980000-1980600	Active TSS	Brain Anterior Caudate	brain
30	chr9:1980000-1980600	Enhancers	NH-A	brain
31	chr9:1980000-1980800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr9:1980000-1980800	Flanking Active TSS	Ovary	ovary
33	chr9:1980200-1980400	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr9:1980200-1980600	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr9:1980200-1980600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr9:1980200-1980600	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr9:1980200-1981000	Flanking Active TSS	NHDF-Ad	bronchial
38	chr9:1980200-1981200	Flanking Active TSS	Liver	Liver

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