Variant report

Variant	rs576326642
Chromosome Location	chr18:12421485-12421486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:
2	chr18:12406749..12409861-chr18:12418820..12421803,8	MCF-7	breast:
3	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
4	chr18:12421209..12423248-chr18:12437108..12438890,2	MCF-7	breast:
5	chr18:12375743..12378274-chr18:12418543..12422031,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267199	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv909404	chr18:12409955-12438402	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv9610	chr18:12417586-12424527	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv519557	chr18:12417905-12431506	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv3338945	chr18:12419177-12422125	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	esv3428897	chr18:12419827-12421825	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	esv3436965	chr18:12420352-12421500	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12410400-12430400	Weak transcription	A549	lung
2	chr18:12418200-12430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:12419800-12421600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr18:12420200-12434800	Weak transcription	Stomach Mucosa	stomach
5	chr18:12420400-12426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:12420600-12422600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:12420600-12423000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:12420600-12423600	Weak transcription	Hela-S3	cervix
9	chr18:12420600-12424000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:12420600-12426600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:12420600-12426600	Weak transcription	HSMM	muscle
12	chr18:12420600-12426600	Weak transcription	HSMMtube	muscle
13	chr18:12420600-12426600	Weak transcription	HUVEC	blood vessel
14	chr18:12420600-12426600	Weak transcription	NHEK	skin
15	chr18:12420600-12426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:12420600-12427000	Weak transcription	Fetal Lung	lung
17	chr18:12420600-12427200	Weak transcription	NHDF-Ad	bronchial
18	chr18:12420600-12427800	Weak transcription	HMEC	breast
19	chr18:12420600-12430000	Weak transcription	Pancreas	Pancrea
20	chr18:12420600-12432400	Weak transcription	Left Ventricle	heart
21	chr18:12420600-12432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:12420600-12433600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr18:12420600-12443600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr18:12420800-12421800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:12420800-12421800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr18:12420800-12422000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr18:12420800-12427000	Weak transcription	Aorta	Aorta
29	chr18:12421000-12421600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr18:12421000-12421600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:12421000-12421600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr18:12421000-12421600	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr18:12421000-12421600	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr18:12421000-12421600	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr18:12421000-12421600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr18:12421000-12421600	Enhancers	Fetal Kidney	kidney
37	chr18:12421000-12421600	Flanking Active TSS	GM12878-XiMat	blood
38	chr18:12421000-12421800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:12421000-12421800	Flanking Active TSS	Fetal Brain Female	brain
40	chr18:12421000-12422200	Enhancers	Fetal Brain Male	brain
41	chr18:12421000-12423800	Weak transcription	Right Atrium	heart
42	chr18:12421000-12427200	Weak transcription	Lung	lung
43	chr18:12421200-12421600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:12421200-12421600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr18:12421200-12421600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr18:12421200-12421800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr18:12421200-12421800	Enhancers	Fetal Heart	heart
48	chr18:12421200-12421800	Enhancers	Thymus	Thymus
49	chr18:12421200-12422000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:12421200-12422400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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