Variant report

Variant	rs512810
Chromosome Location	chr18:12415407-12415408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
2	chr18:12410197..12415577-chr18:12418474..12421681,6	MCF-7	breast:
3	chr18:12375250..12378013-chr18:12414688..12417638,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141391	Chromatin interaction
ENSG00000141385	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1785322	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs486922	0.93[AFR][1000 genomes]
rs510878	1.00[AMR][1000 genomes]
rs559958	1.00[AMR][1000 genomes]
rs56258053	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12408600-12419600	Weak transcription	Thymus	Thymus
2	chr18:12408800-12415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:12408800-12415600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:12408800-12415800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:12408800-12415800	Weak transcription	Left Ventricle	heart
6	chr18:12408800-12417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:12408800-12419800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr18:12408800-12419800	Weak transcription	Pancreas	Pancrea
9	chr18:12409000-12415800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:12409000-12415800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr18:12409000-12415800	Weak transcription	Fetal Intestine Small	intestine
12	chr18:12409000-12415800	Weak transcription	Fetal Lung	lung
13	chr18:12409000-12416000	Weak transcription	Aorta	Aorta
14	chr18:12409000-12416000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr18:12409000-12417600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr18:12409000-12419600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr18:12409000-12419800	Weak transcription	Colonic Mucosa	Colon
18	chr18:12409000-12419800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr18:12409000-12419800	Weak transcription	Fetal Kidney	kidney
20	chr18:12409000-12419800	Weak transcription	Fetal Thymus	thymus
21	chr18:12409200-12415600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:12409200-12415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:12409200-12418400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:12409800-12415600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr18:12409800-12418000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:12409800-12419800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr18:12410000-12415600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:12410000-12415600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr18:12410200-12419800	Weak transcription	NH-A	brain
30	chr18:12410400-12415600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr18:12410400-12415600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr18:12410400-12415600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:12410400-12415600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr18:12410400-12415800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr18:12410400-12417200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:12410400-12419800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:12410400-12419800	Weak transcription	Right Ventricle	heart
38	chr18:12410400-12430400	Weak transcription	A549	lung
39	chr18:12410600-12415600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:12410600-12415600	Weak transcription	HUVEC	blood vessel
41	chr18:12410600-12415600	Weak transcription	NHLF	lung
42	chr18:12410600-12415600	Weak transcription	Osteobl	bone
43	chr18:12410600-12415800	Weak transcription	Fetal Heart	heart
44	chr18:12410600-12417600	Weak transcription	HMEC	breast
45	chr18:12411000-12415600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr18:12411000-12415800	Weak transcription	Stomach Mucosa	stomach
47	chr18:12411800-12415600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr18:12411800-12415800	Weak transcription	Lung	lung
49	chr18:12411800-12419800	Weak transcription	NHEK	skin
50	chr18:12413800-12415600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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