Variant report

Variant	rs28605020
Chromosome Location	chr18:43437725-43437726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43436678..43438824-chr18:43445654..43447934,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152223	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11872710	1.00[EUR][1000 genomes]
rs11872746	1.00[EUR][1000 genomes]
rs11872802	1.00[EUR][1000 genomes]
rs11873365	1.00[EUR][1000 genomes]
rs11875230	1.00[EUR][1000 genomes]
rs11877436	1.00[EUR][1000 genomes]
rs16978476	1.00[EUR][1000 genomes]
rs16978492	1.00[EUR][1000 genomes]
rs16978493	1.00[EUR][1000 genomes]
rs16978494	1.00[EUR][1000 genomes]
rs16978505	1.00[EUR][1000 genomes]
rs28366995	1.00[EUR][1000 genomes]
rs28372661	1.00[EUR][1000 genomes]
rs28438661	1.00[EUR][1000 genomes]
rs28450604	1.00[EUR][1000 genomes]
rs28460769	1.00[EUR][1000 genomes]
rs28461979	1.00[EUR][1000 genomes]
rs28483450	1.00[EUR][1000 genomes]
rs28504009	1.00[EUR][1000 genomes]
rs28563782	1.00[EUR][1000 genomes]
rs28669237	1.00[EUR][1000 genomes]
rs28698347	1.00[EUR][1000 genomes]
rs28757795	1.00[EUR][1000 genomes]
rs28898876	1.00[EUR][1000 genomes]
rs28898881	1.00[EUR][1000 genomes]
rs28898882	1.00[EUR][1000 genomes]
rs28898887	1.00[EUR][1000 genomes]
rs28898895	1.00[EUR][1000 genomes]
rs28994273	1.00[EUR][1000 genomes]
rs28994285	1.00[EUR][1000 genomes]
rs28994287	1.00[EUR][1000 genomes]
rs28994295	1.00[EUR][1000 genomes]
rs34674177	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs515596	1.00[EUR][1000 genomes]
rs56193937	1.00[EUR][1000 genomes]
rs7228878	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7229410	1.00[EUR][1000 genomes]
rs7236728	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7242125	1.00[EUR][1000 genomes]
rs7243454	1.00[EUR][1000 genomes]
rs73953681	1.00[EUR][1000 genomes]
rs8084290	1.00[EUR][1000 genomes]
rs8089544	1.00[EUR][1000 genomes]
rs8089798	1.00[EUR][1000 genomes]
rs8089860	1.00[EUR][1000 genomes]
rs8090934	1.00[EUR][1000 genomes]
rs8094456	1.00[EUR][1000 genomes]
rs9946629	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9946802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9947795	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9948555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9948715	1.00[EUR][1000 genomes]
rs9951978	1.00[EUR][1000 genomes]
rs9953484	1.00[EUR][1000 genomes]
rs9954523	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9955015	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9957147	1.00[EUR][1000 genomes]
rs9957464	1.00[EUR][1000 genomes]
rs9957999	1.00[EUR][1000 genomes]
rs9958360	1.00[EUR][1000 genomes]
rs9958987	1.00[EUR][1000 genomes]
rs9959151	1.00[EUR][1000 genomes]
rs9959239	1.00[EUR][1000 genomes]
rs9960635	1.00[EUR][1000 genomes]
rs9961926	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9964753	1.00[EUR][1000 genomes]
rs9964968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9965236	1.00[EUR][1000 genomes]
rs9965728	1.00[EUR][1000 genomes]
rs9966061	1.00[EUR][1000 genomes]
rs9967557	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	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43418400-43439000	Weak transcription	A549	lung
2	chr18:43420200-43491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:43420800-43442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:43426000-43438200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:43426400-43446000	Weak transcription	Stomach Mucosa	stomach
6	chr18:43427000-43441600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr18:43427800-43441200	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr18:43428000-43441200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:43428000-43448400	Strong transcription	Primary T cells from cord blood	blood
10	chr18:43428200-43437800	Weak transcription	K562	blood
11	chr18:43428200-43440400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:43428200-43448200	Strong transcription	Placenta	Placenta
13	chr18:43428200-43455600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:43428400-43448400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr18:43428400-43467800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr18:43428600-43440600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr18:43428600-43442800	Strong transcription	Thymus	Thymus
18	chr18:43428600-43448800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr18:43429000-43441400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr18:43429000-43448200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr18:43429000-43454600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:43429000-43464800	Strong transcription	Fetal Intestine Large	intestine
23	chr18:43429200-43440400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:43429200-43440600	Strong transcription	Fetal Muscle Leg	muscle
25	chr18:43429200-43440800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr18:43429200-43440800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr18:43429200-43441200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:43429200-43443600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:43429200-43444000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:43429200-43448200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr18:43429200-43448400	Strong transcription	Dnd41	blood
32	chr18:43429200-43451800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr18:43429200-43451800	Strong transcription	Fetal Thymus	thymus
34	chr18:43429200-43453200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr18:43429200-43454400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr18:43429200-43462400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr18:43429200-43464800	Strong transcription	HSMM	muscle
38	chr18:43429200-43473200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:43429400-43440800	Strong transcription	HSMMtube	muscle
40	chr18:43429400-43444600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr18:43429400-43453000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr18:43429400-43454200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr18:43429400-43454600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr18:43429400-43468600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr18:43429600-43441200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr18:43429600-43448400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr18:43429800-43440800	Strong transcription	Lung	lung
48	chr18:43429800-43448200	Strong transcription	Primary B cells from cord blood	blood
49	chr18:43431200-43448200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr18:43431200-43448200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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