Variant report

Variant	rs12608028
Chromosome Location	chr18:45438921-45438922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45436938..45439743-chr18:45441401..45443644,2	MCF-7	breast:
2	chr18:45436720..45439096-chr18:45454561..45459075,5	K562	blood:
3	chr18:45435138..45437489-chr18:45437508..45439751,3	MCF-7	breast:
4	chr18:45419455..45422415-chr18:45437931..45439603,2	K562	blood:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72912372	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45420800-45439600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:45423200-45451400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr18:45431000-45442800	Weak transcription	Lung	lung
4	chr18:45433200-45439400	Weak transcription	Pancreas	Pancrea
5	chr18:45433200-45455000	Weak transcription	Fetal Stomach	stomach
6	chr18:45433200-45455400	Weak transcription	Fetal Brain Male	brain
7	chr18:45433400-45439400	Weak transcription	Stomach Mucosa	stomach
8	chr18:45433400-45439600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:45433400-45442800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:45433400-45442800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:45433400-45446400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:45433400-45452200	Weak transcription	Fetal Lung	lung
13	chr18:45433600-45446000	Weak transcription	Placenta	Placenta
14	chr18:45433800-45440400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr18:45434000-45442000	Weak transcription	HSMM	muscle
16	chr18:45434000-45446600	Weak transcription	Primary B cells from cord blood	blood
17	chr18:45434000-45454600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr18:45435000-45442200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:45435200-45439600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:45435400-45452400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:45435600-45444400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:45435600-45455800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr18:45436200-45440200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr18:45436600-45441000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr18:45436600-45441600	Weak transcription	NHDF-Ad	bronchial
26	chr18:45436800-45439800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:45436800-45442000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr18:45437200-45439800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr18:45437200-45444800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:45437400-45439200	Enhancers	Fetal Thymus	thymus
31	chr18:45437400-45441000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr18:45437600-45439600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr18:45437600-45440000	Enhancers	Fetal Intestine Small	intestine
34	chr18:45437600-45442400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr18:45437600-45442600	Enhancers	Colon Smooth Muscle	Colon
36	chr18:45437600-45442800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr18:45437800-45439000	Enhancers	Thymus	Thymus
38	chr18:45437800-45439000	Enhancers	Spleen	Spleen
39	chr18:45437800-45439200	Enhancers	Brain Substantia Nigra	brain
40	chr18:45437800-45439200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr18:45437800-45439400	Enhancers	Primary hematopoietic stem cells	blood
42	chr18:45437800-45439600	Enhancers	Left Ventricle	heart
43	chr18:45437800-45439600	Enhancers	Right Atrium	heart
44	chr18:45437800-45439800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr18:45437800-45440000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr18:45437800-45440600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:45437800-45440600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr18:45437800-45440600	Enhancers	Adipose Nuclei	Adipose
49	chr18:45437800-45440600	Enhancers	Brain Hippocampus Middle	brain
50	chr18:45437800-45440600	Enhancers	HepG2	liver

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