Variant report

Variant	rs533561182
Chromosome Location	chr9:1051052-1051053
allele	C/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	MAX	chr9:1049597-1051056	MCF-7	breast:	n/a	chr9:1050415-1050425
2	HA-E2F1	chr9:1049789-1051165	MCF-7	breast:	n/a	chr9:1050435-1050442 chr9:1050247-1050256 chr9:1050278-1050287 chr9:1050418-1050428 chr9:1050435-1050442 chr9:1050435-1050442 chr9:1050434-1050446
3	POLR2A	chr9:1049803-1053615	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:1050736..1051474-chr9:1211377..1212172,7	MCF-7	breast:

Variant related genes	Relation type
DMRT2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
8	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
9	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
10	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
11	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
12	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
13	esv3420946	chr9:1050577-1053125	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv948914	chr9:1050981-1311310	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1048400-1051400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
2	chr9:1049600-1051600	Enhancers	Pancreas	Pancrea
3	chr9:1049600-1053400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
4	chr9:1049800-1051600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
5	chr9:1049800-1052200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr9:1049800-1052200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
7	chr9:1049800-1053000	Active TSS	Psoas Muscle	Psoas
8	chr9:1049800-1053200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr9:1049800-1053200	Bivalent Enhancer	Liver	Liver
10	chr9:1050000-1051200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
11	chr9:1050000-1051200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr9:1050000-1051200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr9:1050000-1051400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
14	chr9:1050000-1051600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:1050000-1051600	Bivalent/Poised TSS	Fetal Thymus	thymus
16	chr9:1050000-1052000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
17	chr9:1050000-1052200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:1050000-1052400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:1050000-1052600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr9:1050000-1052800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr9:1050000-1053200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr9:1050000-1053400	Bivalent/Poised TSS	Thymus	Thymus
23	chr9:1050200-1051200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr9:1050200-1051400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr9:1050400-1051200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr9:1050400-1051600	Weak transcription	Osteobl	bone
27	chr9:1050400-1053200	Bivalent Enhancer	Fetal Brain Male	brain
28	chr9:1050600-1051400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:1050600-1051600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:1050600-1051600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:1050600-1051600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr9:1050600-1051600	Weak transcription	HSMM	muscle
33	chr9:1050600-1051800	Weak transcription	HSMMtube	muscle
34	chr9:1050600-1053000	Bivalent Enhancer	Fetal Stomach	stomach
35	chr9:1050600-1053200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr9:1050800-1051200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr9:1050800-1051200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:1050800-1051200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr9:1050800-1051200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:1050800-1051200	Bivalent Enhancer	NHEK	skin
41	chr9:1050800-1051400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:1050800-1051400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:1050800-1051400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:1050800-1051400	Active TSS	Colonic Mucosa	Colon
45	chr9:1050800-1051400	Enhancers	Esophagus	oesophagus
46	chr9:1050800-1051600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:1050800-1051600	Weak transcription	Right Atrium	heart
48	chr9:1050800-1051600	Weak transcription	NHDF-Ad	bronchial
49	chr9:1050800-1052000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
50	chr9:1050800-1052000	Bivalent Enhancer	Duodenum Mucosa	Duodenum

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