Variant report

Variant	rs12961167
Chromosome Location	chr18:43635780-43635781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12052031	0.86[ASN][1000 genomes]
rs12955201	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12959752	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12963615	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34003734	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359798	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7359800	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8085444	0.87[ASN][1000 genomes]
rs9783888	0.84[ASN][1000 genomes]
rs9807399	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9944637	0.87[ASN][1000 genomes]
rs9947908	0.87[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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
2	chr18:43620200-43636000	Weak transcription	Lung	lung
3	chr18:43626400-43636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:43631200-43636600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr18:43632200-43640400	Weak transcription	Fetal Intestine Small	intestine
6	chr18:43632400-43638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:43632400-43642000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:43632400-43642200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:43632400-43651200	Weak transcription	Pancreas	Pancrea
10	chr18:43632600-43641800	Weak transcription	NHEK	skin
11	chr18:43633000-43640400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:43633200-43651200	Weak transcription	HSMMtube	muscle
13	chr18:43633400-43650200	Weak transcription	NHLF	lung
14	chr18:43633600-43640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr18:43633800-43647600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:43634200-43636400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr18:43634600-43636600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:43634600-43637600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr18:43634800-43636200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr18:43634800-43636400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr18:43635000-43636200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr18:43635000-43636200	Enhancers	Primary T cells from cord blood	blood
23	chr18:43635000-43636200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr18:43635000-43636200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr18:43635000-43636400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr18:43635000-43636400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr18:43635000-43636400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr18:43635000-43636400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr18:43635000-43636400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr18:43635000-43636400	Enhancers	Spleen	Spleen
31	chr18:43635000-43636400	Flanking Active TSS	Dnd41	blood
32	chr18:43635000-43636400	Enhancers	K562	blood
33	chr18:43635000-43636400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr18:43635000-43636600	Enhancers	GM12878-XiMat	blood
35	chr18:43635000-43636800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr18:43635000-43636800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr18:43635000-43637200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr18:43635000-43637200	Enhancers	Fetal Thymus	thymus
39	chr18:43635200-43636200	Enhancers	Osteobl	bone
40	chr18:43635200-43636400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr18:43635200-43636400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:43635200-43636400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr18:43635200-43636600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr18:43635200-43636600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:43635200-43636600	Enhancers	Thymus	Thymus
46	chr18:43635400-43635800	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr18:43635400-43636000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:43635400-43636200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr18:43635400-43636400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr18:43635600-43635800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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