Variant report

Variant	rs73407543
Chromosome Location	chr18:12604771-12604772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12604320..12607057-chr18:12650653..12653511,2	MCF-7	breast:
2	chr18:12596844..12599084-chr18:12603896..12607483,3	K562	blood:
3	chr18:12594070..12599084-chr18:12599553..12605396,7	K562	blood:
4	chr18:12604549..12606213-chr18:12656223..12658281,2	MCF-7	breast:
5	chr18:12604251..12607235-chr18:12656696..12659303,2	MCF-7	breast:
6	chr18:12603548..12606343-chr18:12607471..12609019,2	K562	blood:
7	chr18:12601660..12604327-chr18:12604536..12607212,2	K562	blood:

Variant related genes	Relation type
ENSG00000128789	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000215527	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12607972	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16939759	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17525206	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4797695	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs61550984	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73407546	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9956348	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12597000-12605800	Weak transcription	Gastric	stomach
2	chr18:12597000-12605800	Weak transcription	K562	blood
3	chr18:12597000-12606800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr18:12597800-12610800	Weak transcription	Right Ventricle	heart
5	chr18:12597800-12634600	Weak transcription	Aorta	Aorta
6	chr18:12598000-12606600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:12598000-12607000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:12598000-12607200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr18:12598000-12610000	Weak transcription	Lung	lung
10	chr18:12598200-12606800	Weak transcription	Brain Anterior Caudate	brain
11	chr18:12598600-12608600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr18:12598800-12606000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr18:12598800-12606000	Weak transcription	Left Ventricle	heart
14	chr18:12598800-12606800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr18:12598800-12607000	Weak transcription	Brain Angular Gyrus	brain
16	chr18:12598800-12609000	Weak transcription	Right Atrium	heart
17	chr18:12599000-12606800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:12599000-12606800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:12599800-12606200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:12599800-12607000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:12600000-12606200	Weak transcription	A549	lung
22	chr18:12600000-12607400	Weak transcription	Pancreas	Pancrea
23	chr18:12600200-12607000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:12600400-12605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:12600400-12605800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:12600400-12605800	Weak transcription	Hela-S3	cervix
27	chr18:12600400-12606600	Weak transcription	HepG2	liver
28	chr18:12600400-12606800	Weak transcription	HSMM	muscle
29	chr18:12600400-12607000	Weak transcription	NHLF	lung
30	chr18:12600400-12608600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr18:12600600-12605000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr18:12600600-12606000	Weak transcription	NHEK	skin
33	chr18:12600600-12606400	Weak transcription	HSMMtube	muscle
34	chr18:12600600-12606800	Weak transcription	NHDF-Ad	bronchial
35	chr18:12600800-12604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:12602200-12609200	Weak transcription	Fetal Brain Male	brain
37	chr18:12602200-12638400	Weak transcription	Fetal Brain Female	brain
38	chr18:12602600-12605800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr18:12602600-12606800	Weak transcription	Adipose Nuclei	Adipose
40	chr18:12602800-12605600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr18:12602800-12605800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr18:12602800-12605800	Weak transcription	HUVEC	blood vessel
43	chr18:12602800-12611200	Weak transcription	Spleen	Spleen
44	chr18:12603000-12605800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr18:12603000-12607000	Weak transcription	Fetal Heart	heart
46	chr18:12603200-12605800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr18:12603200-12606800	Weak transcription	Brain Hippocampus Middle	brain
48	chr18:12604600-12605000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr18:12604600-12605800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:12604600-12607000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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