Variant report

Variant	rs4798808
Chromosome Location	chr18:9403792-9403793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9403620..9407006-chr18:9414651..9419488,7	K562	blood:
2	chr18:9403556..9405805-chr18:9474208..9475732,2	K562	blood:
3	chr18:9333321..9335278-chr18:9403311..9405898,2	K562	blood:
4	chr18:9403357..9405145-chr18:9454167..9455721,2	K562	blood:
5	chr18:9401819..9404534-chr18:9474029..9476633,3	MCF-7	breast:
6	chr18:9403602..9406449-chr18:9432221..9434991,2	K562	blood:
7	chr18:9402400..9404038-chr18:9411064..9413182,2	K562	blood:

Variant related genes	Relation type
ENSG00000017797	Chromatin interaction
ENSG00000128791	Chromatin interaction
ENSG00000264964	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1062359	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1074159	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11663997	0.89[EUR][1000 genomes]
rs11878159	0.93[ASN][1000 genomes]
rs11878163	0.92[ASN][1000 genomes]
rs12052039	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12957042	0.82[ASN][1000 genomes]
rs12959183	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12962166	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12963151	0.89[EUR][1000 genomes]
rs12967229	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13285	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1605473	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1605474	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1605476	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2048146	0.95[ASN][1000 genomes]
rs2298545	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2298550	0.95[ASN][1000 genomes]
rs2864495	0.82[ASN][1000 genomes]
rs2902769	0.82[ASN][1000 genomes]
rs2902770	0.81[ASN][1000 genomes]
rs35584133	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4511599	0.82[ASN][1000 genomes]
rs4797366	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4798797	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4798801	0.95[ASN][1000 genomes]
rs4798802	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4798804	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4798805	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4798806	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55689225	0.82[ASN][1000 genomes]
rs56050864	0.82[ASN][1000 genomes]
rs56250732	0.82[ASN][1000 genomes]
rs57067414	0.81[ASN][1000 genomes]
rs60386349	0.82[ASN][1000 genomes]
rs62087478	0.93[ASN][1000 genomes]
rs6506655	0.88[ASN][1000 genomes]
rs6506661	0.95[ASN][1000 genomes]
rs6506664	0.82[ASN][1000 genomes]
rs7228819	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7230171	0.93[ASN][1000 genomes]
rs7230328	0.93[ASN][1000 genomes]
rs7234330	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7236073	0.95[ASN][1000 genomes]
rs7236396	0.93[ASN][1000 genomes]
rs7237136	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7237485	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7239225	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7240798	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7241911	0.82[ASN][1000 genomes]
rs7242488	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7242510	0.82[ASN][1000 genomes]
rs7243376	0.93[ASN][1000 genomes]
rs7244054	0.95[ASN][1000 genomes]
rs7245034	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72948167	0.95[ASN][1000 genomes]
rs7846	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8083047	0.81[ASN][1000 genomes]
rs8083076	0.81[ASN][1000 genomes]
rs8083517	0.82[ASN][1000 genomes]
rs8083656	0.82[ASN][1000 genomes]
rs8083841	0.82[ASN][1000 genomes]
rs8083857	0.82[ASN][1000 genomes]
rs8085860	0.82[ASN][1000 genomes]
rs8085947	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8087049	0.82[ASN][1000 genomes]
rs8087096	0.82[ASN][1000 genomes]
rs8090819	0.82[ASN][1000 genomes]
rs8090820	0.82[ASN][1000 genomes]
rs8090974	0.82[ASN][1000 genomes]
rs8091539	0.82[ASN][1000 genomes]
rs8093045	0.93[ASN][1000 genomes]
rs8094970	0.81[ASN][1000 genomes]
rs8096335	0.82[ASN][1000 genomes]
rs8096501	0.82[ASN][1000 genomes]
rs8096789	0.82[ASN][1000 genomes]
rs8097838	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8099673	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9635819	0.93[ASN][1000 genomes]
rs965280	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9675975	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9807630	0.82[ASN][1000 genomes]
rs9944562	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9959183	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9963516	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9966510	0.81[ASN][1000 genomes]
rs9966961	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4798808	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 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	chr18:9364800-9409400	Weak transcription	Aorta	Aorta
4	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
5	chr18:9381400-9404600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr18:9388600-9404200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr18:9388800-9413200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr18:9389000-9403800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:9389400-9405400	Weak transcription	Lung	lung
10	chr18:9390400-9404400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:9390800-9404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr18:9391000-9403800	Weak transcription	Gastric	stomach
13	chr18:9391400-9404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:9392000-9403800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr18:9392200-9404400	Weak transcription	Adipose Nuclei	Adipose
16	chr18:9392400-9404600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr18:9392400-9404600	Weak transcription	Brain Hippocampus Middle	brain
18	chr18:9393200-9411400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:9393400-9407600	Weak transcription	Brain Germinal Matrix	brain
20	chr18:9393600-9404000	Weak transcription	Primary B cells from cord blood	blood
21	chr18:9395000-9405600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:9395400-9404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr18:9395400-9404400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr18:9395600-9406000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:9396600-9413800	Weak transcription	NH-A	brain
26	chr18:9396800-9404200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr18:9397200-9413600	Weak transcription	HSMMtube	muscle
28	chr18:9397200-9416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr18:9397400-9406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:9397600-9404600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr18:9397800-9416600	Weak transcription	HSMM	muscle
32	chr18:9398400-9404400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr18:9399000-9404400	Weak transcription	Right Atrium	heart
34	chr18:9399200-9404800	Weak transcription	Ovary	ovary
35	chr18:9399600-9413600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:9400600-9404000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr18:9400600-9413400	Weak transcription	Osteobl	bone
38	chr18:9400600-9416600	Weak transcription	Brain Anterior Caudate	brain
39	chr18:9400800-9408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:9401000-9408600	Weak transcription	NHEK	skin
41	chr18:9401400-9406000	Weak transcription	Brain Substantia Nigra	brain
42	chr18:9401400-9413800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:9401600-9413600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr18:9402400-9404000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr18:9402600-9404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:9402600-9404000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:9402600-9404000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr18:9402600-9404000	Strong transcription	Fetal Muscle Leg	muscle
49	chr18:9402800-9403800	Weak transcription	GM12878-XiMat	blood
50	chr18:9403000-9406400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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