Variant report

Variant	rs565070834
Chromosome Location	chr18:12592250-12592251
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12590605..12592377-chr18:12592631..12594749,2	K562	blood:
2	chr18:12375821..12377792-chr18:12591523..12594152,2	MCF-7	breast:
3	chr18:12590720..12592550-chr18:12594454..12597445,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv131761	chr18:12591993-12593952	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12570000-12595600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:12587000-12592600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:12587800-12596800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr18:12588000-12595400	Weak transcription	Fetal Heart	heart
5	chr18:12588800-12595800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr18:12589600-12595400	Weak transcription	Brain Anterior Caudate	brain
7	chr18:12589600-12595800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr18:12589600-12597000	Weak transcription	Aorta	Aorta
9	chr18:12589800-12592600	Weak transcription	HepG2	liver
10	chr18:12589800-12595800	Weak transcription	Brain Hippocampus Middle	brain
11	chr18:12589800-12596000	Weak transcription	Fetal Kidney	kidney
12	chr18:12589800-12597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:12589800-12597200	Weak transcription	Ovary	ovary
14	chr18:12589800-12597400	Weak transcription	Brain Angular Gyrus	brain
15	chr18:12590000-12597400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr18:12590800-12597200	Weak transcription	Fetal Brain Male	brain
17	chr18:12590800-12597800	Weak transcription	Pancreas	Pancrea
18	chr18:12590800-12599200	Weak transcription	Liver	Liver
19	chr18:12591000-12592600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr18:12591200-12596800	Weak transcription	Fetal Brain Female	brain
21	chr18:12591400-12595400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr18:12591400-12595600	Weak transcription	Brain Substantia Nigra	brain
23	chr18:12591400-12596800	Weak transcription	Left Ventricle	heart
24	chr18:12591400-12596800	Weak transcription	Right Atrium	heart

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