Variant report

Variant	rs28718549
Chromosome Location	chr18:13439668-13439669
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13424613..13428193-chr18:13437008..13440307,5	MCF-7	breast:
2	chr18:13436258..13439844-chr18:13443076..13447320,5	MCF-7	breast:
3	chr18:13433251..13440497-chr18:13536821..13545503,23	MCF-7	breast:
4	chr18:13437137..13441047-chr18:13441782..13445878,6	MCF-7	breast:
5	chr18:13438512..13440141-chr18:13467858..13470306,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267690	Chromatin interaction
ENSG00000168675	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57670234	1.00[AMR][1000 genomes]
rs58712291	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv909411	chr18:13425604-13493554	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13417200-13447200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr18:13418400-13452200	Weak transcription	Colonic Mucosa	Colon
3	chr18:13421600-13446600	Weak transcription	Gastric	stomach
4	chr18:13425800-13445200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr18:13426200-13446200	Weak transcription	Esophagus	oesophagus
6	chr18:13426600-13443800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:13427400-13441200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr18:13427400-13447600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr18:13427600-13446600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:13428400-13446600	Weak transcription	Brain Angular Gyrus	brain
11	chr18:13428400-13448000	Weak transcription	Psoas Muscle	Psoas
12	chr18:13428600-13444800	Weak transcription	Adipose Nuclei	Adipose
13	chr18:13433600-13439800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr18:13435200-13440000	Weak transcription	HepG2	liver
15	chr18:13435800-13439800	Enhancers	Brain Anterior Caudate	brain
16	chr18:13435800-13451600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:13436000-13440600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:13436800-13439800	Flanking Active TSS	Thymus	Thymus
19	chr18:13437000-13440800	Flanking Active TSS	Dnd41	blood
20	chr18:13437000-13444800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr18:13437400-13440600	Weak transcription	Lung	lung
22	chr18:13437400-13450400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr18:13438000-13442600	Weak transcription	Brain Germinal Matrix	brain
24	chr18:13438000-13446000	Weak transcription	Brain Hippocampus Middle	brain
25	chr18:13438200-13440800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr18:13438400-13441400	Weak transcription	Fetal Muscle Leg	muscle
27	chr18:13438400-13442400	Weak transcription	Left Ventricle	heart
28	chr18:13438400-13443200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:13438400-13444600	Weak transcription	Fetal Brain Male	brain
30	chr18:13438400-13445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr18:13438400-13449800	Weak transcription	Right Atrium	heart
32	chr18:13438600-13439800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr18:13438600-13439800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr18:13438600-13440200	Enhancers	Primary T cells from cord blood	blood
35	chr18:13438600-13440200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr18:13438600-13440200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr18:13438600-13440800	Weak transcription	Fetal Brain Female	brain
38	chr18:13438600-13441200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr18:13438600-13451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr18:13438800-13441000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:13438800-13443600	Weak transcription	Fetal Heart	heart
42	chr18:13439000-13440200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr18:13439000-13440400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr18:13439000-13443600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:13439000-13445600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:13439000-13446600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:13439200-13440000	Weak transcription	Liver	Liver
48	chr18:13439200-13440600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr18:13439200-13443400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr18:13439200-13446200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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