Variant report

Variant	rs1074159
Chromosome Location	chr18:9391407-9391408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1062359	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10853376	0.83[ASN][1000 genomes]
rs11081473	0.83[ASN][1000 genomes]
rs11081474	0.84[ASN][1000 genomes]
rs11663997	0.89[EUR][1000 genomes]
rs11873989	0.84[ASN][1000 genomes]
rs11875585	0.83[ASN][1000 genomes]
rs11875640	0.83[ASN][1000 genomes]
rs11876171	0.83[ASN][1000 genomes]
rs11876202	0.83[ASN][1000 genomes]
rs11878159	0.98[ASN][1000 genomes]
rs11878163	0.97[ASN][1000 genomes]
rs12052039	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12604438	0.83[ASN][1000 genomes]
rs12956692	0.83[ASN][1000 genomes]
rs12959183	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12962014	0.83[ASN][1000 genomes]
rs12962166	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12963151	0.89[EUR][1000 genomes]
rs12967229	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13285	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1443594	0.83[ASN][1000 genomes]
rs1443595	0.83[ASN][1000 genomes]
rs1443599	0.84[ASN][1000 genomes]
rs1605473	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1605474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1605476	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2048146	1.00[ASN][1000 genomes]
rs2120317	0.83[ASN][1000 genomes]
rs2298545	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2298550	0.97[ASN][1000 genomes]
rs35584133	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3786173	0.83[ASN][1000 genomes]
rs3859293	0.80[ASN][1000 genomes]
rs4567794	0.83[ASN][1000 genomes]
rs4797366	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4798794	0.83[ASN][1000 genomes]
rs4798797	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798801	1.00[ASN][1000 genomes]
rs4798802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4798805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798806	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4798808	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57524426	0.82[ASN][1000 genomes]
rs62087478	0.98[ASN][1000 genomes]
rs6506652	0.83[ASN][1000 genomes]
rs6506653	0.83[ASN][1000 genomes]
rs6506654	0.83[ASN][1000 genomes]
rs6506655	0.93[ASN][1000 genomes]
rs6506661	0.99[ASN][1000 genomes]
rs7228819	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230171	0.98[ASN][1000 genomes]
rs7230328	0.98[ASN][1000 genomes]
rs7233925	0.83[ASN][1000 genomes]
rs7234330	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7234762	0.83[ASN][1000 genomes]
rs7236073	0.99[ASN][1000 genomes]
rs7236396	0.98[ASN][1000 genomes]
rs7237136	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7237485	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7239225	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7240798	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7242488	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7243376	0.98[ASN][1000 genomes]
rs7244054	1.00[ASN][1000 genomes]
rs7245034	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72948167	1.00[ASN][1000 genomes]
rs7846	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8085920	0.83[ASN][1000 genomes]
rs8085947	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8087892	0.84[ASN][1000 genomes]
rs8093045	0.98[ASN][1000 genomes]
rs8096911	0.84[ASN][1000 genomes]
rs8096988	0.82[ASN][1000 genomes]
rs8097654	0.83[ASN][1000 genomes]
rs8097838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099673	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs925100	0.83[ASN][1000 genomes]
rs9635818	0.80[ASN][1000 genomes]
rs9635819	0.98[ASN][1000 genomes]
rs9635873	0.80[ASN][1000 genomes]
rs965280	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9675975	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9944562	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9956536	0.84[ASN][1000 genomes]
rs9957701	0.84[ASN][1000 genomes]
rs9959183	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9963516	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9966961	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9967388	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv909365	chr18:9299538-9400422	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1074159	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9341200-9403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:9344400-9404200	Weak transcription	Primary T cells from cord blood	blood
3	chr18:9360400-9403000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr18:9364800-9409400	Weak transcription	Aorta	Aorta
5	chr18:9366600-9396200	Weak transcription	NH-A	brain
6	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
7	chr18:9366800-9397000	Weak transcription	NHEK	skin
8	chr18:9367800-9395600	Weak transcription	Left Ventricle	heart
9	chr18:9368400-9397200	Weak transcription	Placenta	Placenta
10	chr18:9381200-9391800	Weak transcription	HSMMtube	muscle
11	chr18:9381200-9399400	Weak transcription	Colon Smooth Muscle	Colon
12	chr18:9381400-9395800	Weak transcription	Ovary	ovary
13	chr18:9381400-9404600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:9386400-9391800	Weak transcription	Adipose Nuclei	Adipose
15	chr18:9387200-9403600	Weak transcription	K562	blood
16	chr18:9388200-9402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr18:9388600-9404200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr18:9388800-9402600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:9388800-9413200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr18:9389000-9391800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr18:9389000-9403800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:9389400-9392400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:9389400-9392400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:9389400-9393800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr18:9389400-9393800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:9389400-9405400	Weak transcription	Lung	lung
27	chr18:9389800-9392400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:9390000-9391600	Strong transcription	NHLF	lung
29	chr18:9390000-9394000	Weak transcription	HSMM	muscle
30	chr18:9390200-9397200	Weak transcription	Small Intestine	intestine
31	chr18:9390400-9392200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr18:9390400-9392800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr18:9390400-9393000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:9390400-9393000	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr18:9390400-9393400	ZNF genes & repeats	Brain Germinal Matrix	brain
36	chr18:9390400-9393800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr18:9390400-9404400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr18:9390600-9391800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:9390600-9392000	Strong transcription	HUVEC	blood vessel
40	chr18:9390600-9392200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr18:9390600-9392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr18:9390600-9392200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr18:9390600-9392200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr18:9390600-9392400	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr18:9390600-9392600	ZNF genes & repeats	GM12878-XiMat	blood
46	chr18:9390600-9393000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:9390600-9393200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:9390600-9393400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr18:9390800-9392000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr18:9390800-9392000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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