Variant report

Variant	rs73382438
Chromosome Location	chr9:973514-973515
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	POLR2A	chr9:973349-975160	H1-neurons	neurons:	n/a	n/a
2	SUZ12	chr9:972207-974176	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr9:971617-973784	H1-hESC	embryonic stem cell:	n/a	n/a
4	SETDB1	chr9:973442-973984	U2OS	brain:	n/a	n/a
5	ZNF263	chr9:973488-973970	HEK293-T-REx	kidney:	n/a	n/a
6	POLR2A	chr9:973454-973857	H1-neurons	neurons:	n/a	n/a
7	SUZ12	chr9:972157-978361	NT2-D1	testis:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:967263..969449-chr9:973261..974895,2	MCF-7	breast:

Variant related genes	Relation type
DMRT3	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10121975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16927146	1.00[EUR][1000 genomes]
rs16928356	1.00[EUR][1000 genomes]
rs35541630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55815241	1.00[EUR][1000 genomes]
rs57487518	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57558840	1.00[EUR][1000 genomes]
rs59155009	1.00[EUR][1000 genomes]
rs60301829	1.00[EUR][1000 genomes]
rs60678247	1.00[AMR][1000 genomes]
rs7041977	1.00[EUR][1000 genomes]
rs73380471	1.00[EUR][1000 genomes]
rs73380482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382412	1.00[EUR][1000 genomes]
rs73382420	1.00[EUR][1000 genomes]
rs73382440	1.00[EUR][1000 genomes]
rs73386518	1.00[EUR][1000 genomes]
rs73386558	1.00[EUR][1000 genomes]
rs7390001	1.00[EUR][1000 genomes]
rs7859422	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025492	chr9:478813-1157169	Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv539897	chr9:478813-1157169	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv429977	chr9:584087-983301	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv613037	chr9:643453-1138368	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817248	chr9:706283-1457665	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv831491	chr9:794113-974142	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv892010	chr9:841152-1069663	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1034070	chr9:911265-1152351	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv2755928	chr9:924525-985979	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv892013	chr9:943611-1047343	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1018926	chr9:965006-1014141	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv892014	chr9:972476-1032153	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:971400-973600	Bivalent Enhancer	Liver	Liver
2	chr9:971400-973800	Bivalent Enhancer	Stomach Mucosa	stomach
3	chr9:971600-973800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr9:971800-973800	Active TSS	Right Atrium	heart
5	chr9:972200-973800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr9:972400-973600	Bivalent Enhancer	Brain Anterior Caudate	brain
7	chr9:972400-973600	Bivalent Enhancer	Brain Germinal Matrix	brain
8	chr9:972400-973600	Bivalent Enhancer	Colon Smooth Muscle	Colon
9	chr9:972400-973800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:972400-973800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr9:972600-973600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
12	chr9:972600-973600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr9:972600-974000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr9:972800-973600	Enhancers	Pancreas	Pancrea
15	chr9:973000-973600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr9:973000-973600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr9:973000-973800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr9:973000-976200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:973200-973600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
20	chr9:973200-973600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:973200-973600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
22	chr9:973200-973600	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr9:973200-973600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
24	chr9:973200-973800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr9:973200-974400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr9:973200-976000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr9:973400-973600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
28	chr9:973400-973600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:973400-973600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr9:973400-973600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
31	chr9:973400-973800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:973400-973800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr9:973400-973800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr9:973400-974000	Bivalent/Poised TSS	NHEK	skin
35	chr9:973400-975400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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