Variant report

Variant	rs138990997
Chromosome Location	chr18:12645023-12645024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12643324..12646056-chr18:12656295..12659962,4	MCF-7	breast:
2	chr18:12639049..12640550-chr18:12644978..12647859,2	MCF-7	breast:
3	chr18:12643422..12646156-chr18:12653146..12655533,3	MCF-7	breast:

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

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

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv1791969	chr18:12643193-12697711	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12607800-12651800	Weak transcription	Brain Germinal Matrix	brain
2	chr18:12616600-12645200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr18:12621200-12645200	Weak transcription	Fetal Muscle Leg	muscle
4	chr18:12630400-12645400	Weak transcription	Ovary	ovary
5	chr18:12631000-12645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr18:12631000-12645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr18:12631200-12647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr18:12631400-12645200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr18:12633600-12655800	Weak transcription	Fetal Stomach	stomach
10	chr18:12635000-12645800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:12635200-12645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:12637800-12645400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:12637800-12652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:12638800-12645200	Weak transcription	Brain Anterior Caudate	brain
15	chr18:12639000-12645200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:12639600-12645800	Weak transcription	Esophagus	oesophagus
17	chr18:12640400-12652000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr18:12641000-12645200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:12641000-12645200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr18:12641000-12645200	Weak transcription	Pancreas	Pancrea
21	chr18:12641000-12645400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr18:12641000-12645400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:12641000-12645800	Weak transcription	K562	blood
24	chr18:12641000-12646000	Weak transcription	Right Ventricle	heart
25	chr18:12641000-12648200	Weak transcription	Hela-S3	cervix
26	chr18:12641200-12645200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:12641200-12645200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:12641200-12645200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:12641200-12645200	Weak transcription	Placenta	Placenta
30	chr18:12641200-12645400	Weak transcription	NH-A	brain
31	chr18:12641200-12645600	Weak transcription	Fetal Lung	lung
32	chr18:12641200-12645600	Weak transcription	NHDF-Ad	bronchial
33	chr18:12641200-12645800	Weak transcription	Lung	lung
34	chr18:12641400-12647200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr18:12641600-12645800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:12642200-12645600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:12642600-12645200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr18:12642600-12645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:12642600-12646200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:12642800-12645400	Weak transcription	Left Ventricle	heart
41	chr18:12642800-12645600	Weak transcription	Adipose Nuclei	Adipose
42	chr18:12643200-12645600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr18:12643200-12646200	Enhancers	HMEC	breast
44	chr18:12643200-12646600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr18:12643400-12645200	Weak transcription	Liver	Liver
46	chr18:12643400-12646200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr18:12643400-12646400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:12643400-12646400	Enhancers	Psoas Muscle	Psoas
49	chr18:12643600-12645200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr18:12643600-12645200	Weak transcription	HepG2	liver

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