Variant report

Variant	rs7240653
Chromosome Location	chr18:12598848-12598849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12598216..12599917-chr18:12611119..12613294,2	MCF-7	breast:
2	chr18:12594070..12599084-chr18:12599553..12605396,7	K562	blood:
3	chr18:12548166..12550496-chr18:12597358..12599512,2	MCF-7	breast:
4	chr18:12596844..12599084-chr18:12603896..12607483,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57496201	0.80[AFR][1000 genomes]
rs60366581	1.00[AMR][1000 genomes]
rs61710391	1.00[AMR][1000 genomes]
rs61750780	1.00[AMR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12590800-12599200	Weak transcription	Liver	Liver
2	chr18:12594600-12600400	Enhancers	HepG2	liver
3	chr18:12595400-12599400	Enhancers	Fetal Heart	heart
4	chr18:12595400-12600400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr18:12595600-12600400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:12595600-12600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:12595600-12600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:12595800-12599000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:12595800-12600600	Enhancers	HMEC	breast
10	chr18:12596000-12599200	Enhancers	Fetal Lung	lung
11	chr18:12596000-12599600	Enhancers	Fetal Kidney	kidney
12	chr18:12596200-12599200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:12596600-12600000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr18:12596800-12599200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr18:12596800-12599600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:12596800-12599800	Enhancers	Fetal Brain Female	brain
17	chr18:12596800-12600400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:12596800-12600400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:12596800-12600400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:12596800-12600400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:12596800-12600600	Enhancers	NHDF-Ad	bronchial
22	chr18:12596800-12600600	Enhancers	NHEK	skin
23	chr18:12597000-12599000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr18:12597000-12599600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:12597000-12600200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr18:12597000-12605800	Weak transcription	Gastric	stomach
27	chr18:12597000-12605800	Weak transcription	K562	blood
28	chr18:12597000-12606800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr18:12597200-12599000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:12597200-12600000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:12597200-12600400	Enhancers	NHLF	lung
32	chr18:12597400-12599800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr18:12597400-12600400	Enhancers	Primary T cells from cord blood	blood
34	chr18:12597600-12599000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr18:12597600-12600400	Enhancers	HSMM	muscle
36	chr18:12597800-12599000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:12597800-12610800	Weak transcription	Right Ventricle	heart
38	chr18:12597800-12634600	Weak transcription	Aorta	Aorta
39	chr18:12598000-12599200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr18:12598000-12600000	Enhancers	A549	lung
41	chr18:12598000-12600400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr18:12598000-12600400	Enhancers	Osteobl	bone
43	chr18:12598000-12600600	Enhancers	HSMMtube	muscle
44	chr18:12598000-12601800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr18:12598000-12601800	Weak transcription	Brain Hippocampus Middle	brain
46	chr18:12598000-12601800	Weak transcription	Fetal Thymus	thymus
47	chr18:12598000-12606600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr18:12598000-12607000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr18:12598000-12607200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr18:12598000-12610000	Weak transcription	Lung	lung

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