Variant report

Variant	rs73386575
Chromosome Location	chr9:1045502-1045503
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	FOXA2	chr9:1045061-1045513	A549	lung:	n/a	n/a
2	CEBPB	chr9:1045468-1045736	HepG2	liver:	n/a	n/a
3	CEBPB	chr9:1045447-1045733	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:1044385..1047451-chr9:1048271..1050473,4	MCF-7	breast:
2	chr9:1007423..1009287-chr9:1045081..1047981,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT2-1	chr9:1045426-1045800	XLOC_007262

Variant related genes	Relation type
DMRT2	TF binding region
ENSG00000173253	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10123391	1.00[EUR][1000 genomes]
rs16927276	1.00[EUR][1000 genomes]
rs55828934	1.00[EUR][1000 genomes]
rs55837253	1.00[EUR][1000 genomes]
rs6474554	1.00[EUR][1000 genomes]
rs72703236	1.00[EUR][1000 genomes]
rs72703237	1.00[EUR][1000 genomes]
rs72703240	1.00[EUR][1000 genomes]
rs73380434	1.00[EUR][1000 genomes]
rs73384624	1.00[EUR][1000 genomes]
rs73386576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs756347	1.00[EUR][1000 genomes]
rs7848639	1.00[EUR][1000 genomes]
rs7849591	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
4	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
5	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
6	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
7	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
8	nsv1016222	chr9:999390-1284180	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1025752	chr9:1003311-1124524	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1027466	chr9:1007196-1097053	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1033117	chr9:1007196-1129306	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1016321	chr9:1034594-1592366	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv539908	chr9:1034594-1592366	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1044600-1045600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:1044600-1045800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr9:1044600-1047800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:1044800-1045600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:1044800-1045600	Bivalent Enhancer	Brain Substantia Nigra	brain
6	chr9:1044800-1046000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr9:1044800-1046200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr9:1044800-1046200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr9:1044800-1046200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:1044800-1046200	Bivalent Enhancer	Liver	Liver
11	chr9:1044800-1046200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr9:1044800-1046200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
13	chr9:1044800-1047600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr9:1044800-1047800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:1044800-1047800	Bivalent Enhancer	Fetal Stomach	stomach
16	chr9:1044800-1047800	Enhancers	Pancreas	Pancrea
17	chr9:1045000-1045600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr9:1045000-1045800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr9:1045000-1045800	Enhancers	Right Ventricle	heart
20	chr9:1045000-1045800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
21	chr9:1045200-1045600	Active TSS	Adipose Nuclei	Adipose
22	chr9:1045200-1045800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:1045400-1045600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr9:1045400-1045600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:1045400-1045600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr9:1045400-1045600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:1045400-1045600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:1045400-1045600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:1045400-1045600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
30	chr9:1045400-1045600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr9:1045400-1045600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
32	chr9:1045400-1045600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr9:1045400-1045600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
34	chr9:1045400-1045800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr9:1045400-1045800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:1045400-1045800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr9:1045400-1045800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:1045400-1045800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
39	chr9:1045400-1045800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr9:1045400-1045800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:1045400-1045800	Bivalent Enhancer	NH-A	brain
42	chr9:1045400-1046000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr9:1045400-1046000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr9:1045400-1046000	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr9:1045400-1046000	Bivalent Enhancer	Fetal Thymus	thymus
46	chr9:1045400-1046000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
47	chr9:1045400-1046200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
48	chr9:1045400-1046200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:1045400-1046200	Bivalent Enhancer	Fetal Brain Male	brain
50	chr9:1045400-1046200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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