Variant report

Variant	rs60384600
Chromosome Location	chr18:43726081-43726082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56023140	1.00[EUR][1000 genomes]
rs59429424	1.00[EUR][1000 genomes]
rs59752873	1.00[EUR][1000 genomes]
rs60077572	0.95[AFR][1000 genomes]
rs60781524	0.95[AFR][1000 genomes]
rs7226417	0.95[AFR][1000 genomes]
rs7241791	0.95[AFR][1000 genomes]
rs73427114	1.00[EUR][1000 genomes]
rs73427133	1.00[EUR][1000 genomes]
rs73956207	0.95[AFR][1000 genomes]
rs73956216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73956217	1.00[EUR][1000 genomes]
rs73956219	1.00[EUR][1000 genomes]
rs73956264	1.00[EUR][1000 genomes]
rs73956269	1.00[EUR][1000 genomes]
rs73956270	1.00[EUR][1000 genomes]
rs73956272	1.00[EUR][1000 genomes]
rs73956273	1.00[EUR][1000 genomes]
rs73956280	1.00[EUR][1000 genomes]
rs73956281	1.00[EUR][1000 genomes]
rs73956284	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
4	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
5	chr18:43707600-43735800	Weak transcription	Primary B cells from cord blood	blood
6	chr18:43710000-43732000	Weak transcription	Right Ventricle	heart
7	chr18:43710200-43727800	Weak transcription	Fetal Intestine Large	intestine
8	chr18:43710200-43728800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr18:43710400-43732400	Weak transcription	Lung	lung
10	chr18:43710400-43733000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
12	chr18:43710800-43732000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:43711000-43728600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr18:43711000-43735600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr18:43711200-43732000	Weak transcription	Fetal Muscle Leg	muscle
16	chr18:43712200-43732000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:43712400-43739200	Weak transcription	Fetal Intestine Small	intestine
18	chr18:43714000-43728600	Weak transcription	Primary T cells from cord blood	blood
19	chr18:43714000-43748400	Weak transcription	Ovary	ovary
20	chr18:43715600-43732000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:43715600-43733400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:43715800-43728800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr18:43722400-43736600	Weak transcription	Fetal Stomach	stomach
24	chr18:43723800-43727600	Weak transcription	HSMM	muscle
25	chr18:43724000-43726600	Weak transcription	HSMMtube	muscle
26	chr18:43724000-43732000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:43724200-43728600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:43724400-43732000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:43724800-43732800	Weak transcription	Pancreas	Pancrea

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