Variant report

Variant	rs4798806
Chromosome Location	chr18:9397786-9397787
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9393548..9395841-chr18:9396684..9399360,2	K562	blood:
2	chr18:9396886..9398786-chr18:9399883..9402900,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1062359	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1074159	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11081473	0.80[ASN][1000 genomes]
rs11081474	0.81[ASN][1000 genomes]
rs11663997	0.88[EUR][1000 genomes]
rs11873989	0.81[ASN][1000 genomes]
rs11878159	0.92[ASN][1000 genomes]
rs11878163	0.91[ASN][1000 genomes]
rs12052039	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12604438	0.80[ASN][1000 genomes]
rs12959183	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12962166	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12963151	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12967229	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13285	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1443599	0.81[ASN][1000 genomes]
rs1605473	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1605474	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1605476	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2048146	0.94[ASN][1000 genomes]
rs2120317	0.80[ASN][1000 genomes]
rs2298545	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2298550	0.97[ASN][1000 genomes]
rs35584133	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4797366	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4798797	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4798801	0.94[ASN][1000 genomes]
rs4798802	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4798804	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4798805	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4798808	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62087478	0.92[ASN][1000 genomes]
rs6506654	0.80[ASN][1000 genomes]
rs6506655	0.87[ASN][1000 genomes]
rs6506661	0.93[ASN][1000 genomes]
rs7228819	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7230171	0.92[ASN][1000 genomes]
rs7230328	0.92[ASN][1000 genomes]
rs7234330	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7236073	0.93[ASN][1000 genomes]
rs7236396	0.92[ASN][1000 genomes]
rs7237136	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7237485	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7239225	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7240798	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7242488	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7243376	0.92[ASN][1000 genomes]
rs7244054	0.94[ASN][1000 genomes]
rs7245034	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72948167	0.94[ASN][1000 genomes]
rs7846	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8085947	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8087892	0.81[ASN][1000 genomes]
rs8093045	0.92[ASN][1000 genomes]
rs8096911	0.81[ASN][1000 genomes]
rs8097654	0.80[ASN][1000 genomes]
rs8097838	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8099673	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs925100	0.80[ASN][1000 genomes]
rs9635819	0.92[ASN][1000 genomes]
rs965280	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9675975	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9944562	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9956536	0.81[ASN][1000 genomes]
rs9957701	0.81[ASN][1000 genomes]
rs9959183	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9963516	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9966961	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9967388	0.80[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
rs4798806	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 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	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
6	chr18:9381200-9399400	Weak transcription	Colon Smooth Muscle	Colon
7	chr18:9381400-9404600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr18:9387200-9403600	Weak transcription	K562	blood
9	chr18:9388200-9402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr18:9388600-9404200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:9388800-9402600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:9388800-9413200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr18:9389000-9403800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:9389400-9405400	Weak transcription	Lung	lung
15	chr18:9390400-9404400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr18:9390800-9404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr18:9391000-9403800	Weak transcription	Gastric	stomach
18	chr18:9391400-9404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:9391600-9400200	Weak transcription	NHLF	lung
20	chr18:9392000-9400000	Weak transcription	HUVEC	blood vessel
21	chr18:9392000-9401200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr18:9392000-9403800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr18:9392200-9398000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr18:9392200-9401000	Weak transcription	Brain Substantia Nigra	brain
25	chr18:9392200-9401200	Weak transcription	Fetal Intestine Large	intestine
26	chr18:9392200-9403400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:9392200-9404400	Weak transcription	Adipose Nuclei	Adipose
28	chr18:9392400-9398600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:9392400-9400400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:9392400-9404600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr18:9392400-9404600	Weak transcription	Brain Hippocampus Middle	brain
32	chr18:9392600-9398800	Weak transcription	Fetal Heart	heart
33	chr18:9392600-9400200	Weak transcription	Brain Angular Gyrus	brain
34	chr18:9392800-9401200	Weak transcription	Dnd41	blood
35	chr18:9392800-9402600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr18:9393000-9399800	Weak transcription	Fetal Kidney	kidney
37	chr18:9393000-9401800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:9393200-9397800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:9393200-9411400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:9393400-9407600	Weak transcription	Brain Germinal Matrix	brain
41	chr18:9393600-9404000	Weak transcription	Primary B cells from cord blood	blood
42	chr18:9393800-9399200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:9393800-9399600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr18:9394000-9397800	Strong transcription	HSMM	muscle
45	chr18:9394000-9398400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr18:9394600-9402200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr18:9394800-9398000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr18:9394800-9400800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr18:9394800-9402400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr18:9394800-9402800	Weak transcription	Fetal Brain Female	brain

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