Variant report

Variant	rs12458788
Chromosome Location	chr18:13374637-13374638
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13373046..13375537-chr18:13392405..13395304,3	MCF-7	breast:
2	chr18:13214539..13218165-chr18:13373231..13377099,4	MCF-7	breast:
3	chr18:13370761..13372508-chr18:13373066..13375363,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267239	Chromatin interaction
ENSG00000168675	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12456449	1.00[EUR][1000 genomes]
rs12458792	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73953224	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	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13351800-13374800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr18:13356400-13379200	Weak transcription	Aorta	Aorta
3	chr18:13359400-13379400	Weak transcription	Psoas Muscle	Psoas
4	chr18:13365800-13376400	Weak transcription	Liver	Liver
5	chr18:13367800-13374800	Weak transcription	Right Atrium	heart
6	chr18:13370000-13375000	Weak transcription	Fetal Heart	heart
7	chr18:13370000-13382200	Enhancers	Fetal Brain Male	brain
8	chr18:13370400-13374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:13370400-13374800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:13370400-13374800	Weak transcription	A549	lung
11	chr18:13370400-13375000	Weak transcription	Fetal Stomach	stomach
12	chr18:13370600-13375000	Weak transcription	Stomach Mucosa	stomach
13	chr18:13371200-13375200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr18:13371200-13376200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr18:13371400-13375800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr18:13372200-13376800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr18:13372400-13375000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr18:13372400-13375600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr18:13372400-13377000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr18:13372400-13377000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:13372600-13376400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr18:13372600-13379600	Weak transcription	Colonic Mucosa	Colon
23	chr18:13372800-13374800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr18:13372800-13374800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr18:13372800-13374800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr18:13372800-13374800	Weak transcription	HSMMtube	muscle
27	chr18:13372800-13375000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr18:13372800-13375000	Weak transcription	Small Intestine	intestine
29	chr18:13372800-13377200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr18:13373000-13374800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr18:13373000-13375200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:13373000-13376400	Weak transcription	Primary B cells from cord blood	blood
33	chr18:13373000-13376600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr18:13373000-13388800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:13373600-13374800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr18:13373600-13374800	Weak transcription	Adipose Nuclei	Adipose
37	chr18:13373800-13374800	Weak transcription	Primary T cells from cord blood	blood
38	chr18:13373800-13375000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:13374000-13376600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr18:13374000-13377400	Enhancers	Brain Substantia Nigra	brain
41	chr18:13374200-13374800	Genic enhancers	Dnd41	blood
42	chr18:13374200-13375000	Genic enhancers	Fetal Thymus	thymus
43	chr18:13374200-13375200	Enhancers	Brain Cingulate Gyrus	brain
44	chr18:13374200-13375200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr18:13374200-13375800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr18:13374200-13376000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr18:13374200-13376200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr18:13374200-13376200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr18:13374200-13376800	Genic enhancers	Thymus	Thymus
50	chr18:13374200-13377200	Enhancers	Brain Angular Gyrus	brain

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