Variant report

Variant	rs568448
Chromosome Location	chr18:43592463-43592464
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	chr18:43590898..43593115-chr18:43599068..43601449,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10468858	0.86[ASN][1000 genomes]
rs10468859	0.86[ASN][1000 genomes]
rs10468860	0.94[ASN][1000 genomes]
rs10468978	0.85[ASN][1000 genomes]
rs10468980	0.87[ASN][1000 genomes]
rs12604893	0.86[EUR][1000 genomes]
rs12607686	0.95[EUR][1000 genomes]
rs16978508	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16978509	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16978517	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1837213	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3745001	0.85[EUR][1000 genomes]
rs3897646	0.85[EUR][1000 genomes]
rs486424	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs488431	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4890612	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890613	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55966192	0.96[ASN][1000 genomes]
rs567504	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57141604	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs593664	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs596415	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6507659	0.96[ASN][1000 genomes]
rs6507661	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs687526	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs688547	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7237813	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72642435	0.94[ASN][1000 genomes]
rs920295	0.87[EUR][1000 genomes]
rs9675392	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43558800-43608000	Weak transcription	Pancreas	Pancrea
2	chr18:43560400-43597600	Weak transcription	Left Ventricle	heart
3	chr18:43568600-43596800	Weak transcription	Adipose Nuclei	Adipose
4	chr18:43568800-43607800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:43571400-43622000	Weak transcription	Gastric	stomach
6	chr18:43574200-43593200	Weak transcription	NHDF-Ad	bronchial
7	chr18:43574200-43597400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:43574200-43608000	Weak transcription	NHLF	lung
9	chr18:43574600-43608000	Weak transcription	Osteobl	bone
10	chr18:43580000-43592600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr18:43582200-43592600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr18:43583400-43607800	Weak transcription	Fetal Intestine Small	intestine
13	chr18:43583400-43608200	Weak transcription	Esophagus	oesophagus
14	chr18:43586200-43607600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:43587200-43599800	Weak transcription	Fetal Intestine Large	intestine
16	chr18:43588000-43607400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr18:43589200-43599000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:43589200-43607800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr18:43590200-43593200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr18:43590200-43594800	Weak transcription	Liver	Liver
21	chr18:43590400-43592600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr18:43590400-43593600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr18:43590400-43594800	Weak transcription	Lung	lung
24	chr18:43590800-43600600	Weak transcription	K562	blood
25	chr18:43590800-43601600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr18:43590800-43607800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:43590800-43608000	Weak transcription	Primary T cells from cord blood	blood
28	chr18:43591000-43592800	Weak transcription	Fetal Stomach	stomach
29	chr18:43591000-43592800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr18:43591000-43594000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:43591000-43594000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:43591000-43594400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:43591000-43595000	Weak transcription	Aorta	Aorta
34	chr18:43591000-43595000	Weak transcription	Spleen	Spleen
35	chr18:43591000-43600000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:43591000-43606200	Weak transcription	HMEC	breast
37	chr18:43591000-43607800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr18:43591000-43607800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr18:43591000-43608000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:43591000-43608000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr18:43591000-43608000	Weak transcription	Ovary	ovary
42	chr18:43591200-43593600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr18:43591200-43595000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:43591200-43595200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:43591200-43607400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr18:43591600-43592600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr18:43591600-43593000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr18:43591600-43593000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr18:43591600-43593200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr18:43591600-43593200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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