Variant report

Variant	rs12966088
Chromosome Location	chr18:13417655-13417656
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13414771..13422336-chr18:13423598..13429439,14	MCF-7	breast:
2	chr18:13411921..13414182-chr18:13416977..13418781,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267690	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12962774	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4797770	0.94[EUR][1000 genomes]
rs55826319	0.84[EUR][1000 genomes]
rs7240292	0.83[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13383600-13421200	Weak transcription	Gastric	stomach
2	chr18:13385600-13420800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr18:13390400-13425600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:13395000-13426600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr18:13399000-13418000	Weak transcription	Pancreas	Pancrea
6	chr18:13403400-13426400	Weak transcription	Brain Hippocampus Middle	brain
7	chr18:13407600-13427400	Weak transcription	Brain Substantia Nigra	brain
8	chr18:13411800-13422000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:13413200-13418000	Weak transcription	Fetal Intestine Small	intestine
10	chr18:13413200-13418200	Weak transcription	Esophagus	oesophagus
11	chr18:13413200-13421000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr18:13413200-13421400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr18:13413200-13424400	Weak transcription	Fetal Brain Female	brain
14	chr18:13414200-13418600	Enhancers	Right Ventricle	heart
15	chr18:13414200-13418800	Enhancers	Left Ventricle	heart
16	chr18:13414800-13420800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:13415000-13422400	Enhancers	Fetal Heart	heart
18	chr18:13415200-13418000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr18:13415400-13418600	Enhancers	Psoas Muscle	Psoas
20	chr18:13415600-13417800	Enhancers	Liver	Liver
21	chr18:13415800-13418800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr18:13416000-13418600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr18:13416000-13420800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr18:13416200-13418000	Weak transcription	Colonic Mucosa	Colon
25	chr18:13416200-13418000	Weak transcription	Fetal Muscle Leg	muscle
26	chr18:13416200-13418000	Weak transcription	Lung	lung
27	chr18:13416200-13418200	Weak transcription	Right Atrium	heart
28	chr18:13416200-13420800	Weak transcription	Spleen	Spleen
29	chr18:13416400-13418000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr18:13416400-13418000	Weak transcription	Aorta	Aorta
31	chr18:13416400-13420600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr18:13416400-13420600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr18:13416600-13417800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr18:13416600-13419000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr18:13416600-13419800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr18:13416600-13421000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr18:13416600-13421200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr18:13416600-13421200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr18:13417000-13417800	Active TSS	Duodenum Mucosa	Duodenum
40	chr18:13417000-13417800	Enhancers	HepG2	liver
41	chr18:13417000-13418200	Weak transcription	Fetal Intestine Large	intestine
42	chr18:13417000-13418600	Enhancers	Stomach Mucosa	stomach
43	chr18:13417000-13419000	Enhancers	Adipose Nuclei	Adipose
44	chr18:13417200-13418000	Weak transcription	Fetal Thymus	thymus
45	chr18:13417200-13418000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr18:13417200-13418200	Weak transcription	Brain Anterior Caudate	brain
47	chr18:13417200-13418200	Weak transcription	Small Intestine	intestine
48	chr18:13417200-13418200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr18:13417200-13418400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr18:13417200-13419200	Weak transcription	Thymus	Thymus

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