Variant report

Variant	rs546192828
Chromosome Location	chr9:12718669-12718670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:12715023..12717622-chr9:12718396..12720573,2	MCF-7	breast:
2	chr9:12716514..12718700-chr9:12776478..12778096,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	esv2759671	chr9:12235048-12784092	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1034393	chr9:12278703-12798236	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv869288	chr9:12286919-12816766	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv498136	chr9:12387840-12984158	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1029415	chr9:12424340-12794623	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv540064	chr9:12424340-12794623	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1016570	chr9:12576095-12722387	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2758182	chr9:12621991-12784092	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv613613	chr9:12641987-12773263	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1030835	chr9:12717405-12840928	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr9:12711200-12722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:12717000-12719000	Enhancers	HUVEC	blood vessel
3	chr9:12717800-12718800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:12718000-12718800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:12718200-12719200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:12718200-12719600	Enhancers	Fetal Heart	heart
7	chr9:12718400-12718800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:12718400-12718800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:12718400-12718800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:12718400-12718800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:12718400-12718800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:12718400-12718800	Enhancers	Primary hematopoietic stem cells	blood
13	chr9:12718400-12718800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr9:12718400-12718800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:12718400-12718800	Flanking Active TSS	Fetal Brain Male	brain
16	chr9:12718400-12718800	Enhancers	Lung	lung
17	chr9:12718400-12718800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr9:12718400-12718800	Enhancers	Spleen	Spleen
19	chr9:12718400-12718800	Flanking Active TSS	HSMMtube	muscle
20	chr9:12718400-12719000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:12718400-12719000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:12718400-12719000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr9:12718400-12719000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr9:12718400-12719000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr9:12718400-12719000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:12718400-12719000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:12718400-12719000	Flanking Active TSS	NH-A	brain
28	chr9:12718400-12719200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:12718400-12719200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr9:12718400-12719200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr9:12718400-12719200	Enhancers	Fetal Lung	lung
32	chr9:12718400-12719400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:12718400-12719400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr9:12718400-12719600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:12718400-12719600	Enhancers	HSMM	muscle
36	chr9:12718400-12719600	Enhancers	NHEK	skin
37	chr9:12718600-12718800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
38	chr9:12718600-12718800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:12718600-12718800	Enhancers	Brain Hippocampus Middle	brain
40	chr9:12718600-12718800	Enhancers	HMEC	breast
41	chr9:12718600-12719000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr9:12718600-12719000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr9:12718600-12719000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:12718600-12719000	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr9:12718600-12719000	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr9:12718600-12719000	Enhancers	Placenta	Placenta
47	chr9:12718600-12719200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr9:12718600-12719200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:12718600-12719200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr9:12718600-12719200	Flanking Active TSS	Fetal Brain Female	brain

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