Variant report

Variant	rs28387969
Chromosome Location	chr18:13498934-13498935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13496619..13499164-chr18:13500210..13502815,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267366	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12326936	0.81[EUR][1000 genomes]
rs2162370	0.92[EUR][1000 genomes]
rs35045187	0.96[EUR][1000 genomes]
rs35785014	0.92[EUR][1000 genomes]
rs35860883	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36094178	0.92[EUR][1000 genomes]
rs3901208	0.85[EUR][1000 genomes]
rs71353271	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71353272	0.96[EUR][1000 genomes]
rs71353273	0.81[EUR][1000 genomes]
rs7234036	0.92[EUR][1000 genomes]
rs9916902	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13467000-13501000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr18:13467400-13502200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr18:13470800-13501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr18:13471000-13500400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr18:13471000-13537400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr18:13483800-13502600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr18:13487000-13500800	Weak transcription	Colon Smooth Muscle	Colon
8	chr18:13488800-13499800	Weak transcription	Psoas Muscle	Psoas
9	chr18:13492000-13502000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr18:13493600-13499400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr18:13495200-13502000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr18:13495400-13500400	Weak transcription	Aorta	Aorta
13	chr18:13495800-13499800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:13496800-13499800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:13496800-13500200	Strong transcription	Primary T cells from cord blood	blood
16	chr18:13496800-13500200	Weak transcription	HUVEC	blood vessel
17	chr18:13497000-13499400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr18:13497000-13499600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
19	chr18:13497000-13500200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:13497200-13499400	ZNF genes & repeats	Fetal Thymus	thymus
21	chr18:13497400-13499200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr18:13497600-13499800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr18:13497600-13499800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr18:13497600-13499800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr18:13497600-13500000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
26	chr18:13497600-13500000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr18:13497800-13499000	Strong transcription	Left Ventricle	heart
28	chr18:13497800-13499200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr18:13497800-13499400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr18:13497800-13499400	Strong transcription	Brain Anterior Caudate	brain
31	chr18:13497800-13499400	Strong transcription	Fetal Heart	heart
32	chr18:13497800-13499400	Strong transcription	Right Ventricle	heart
33	chr18:13497800-13499600	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr18:13497800-13499600	Strong transcription	Liver	Liver
35	chr18:13497800-13499600	ZNF genes & repeats	Gastric	stomach
36	chr18:13497800-13499800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr18:13497800-13499800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr18:13497800-13499800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
39	chr18:13497800-13500000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr18:13497800-13500200	Strong transcription	Rectal Smooth Muscle	rectum
41	chr18:13498000-13499400	ZNF genes & repeats	Fetal Lung	lung
42	chr18:13498000-13500000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr18:13498000-13500000	ZNF genes & repeats	Placenta	Placenta
44	chr18:13498000-13500000	ZNF genes & repeats	Fetal Stomach	stomach
45	chr18:13498000-13500200	Strong transcription	Primary hematopoietic stem cells	blood
46	chr18:13498200-13499000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr18:13498200-13499000	Strong transcription	Brain Cingulate Gyrus	brain
48	chr18:13498200-13499000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
49	chr18:13498200-13499200	Strong transcription	Fetal Brain Male	brain
50	chr18:13498200-13499400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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