Variant report

Variant	rs1605476
Chromosome Location	chr18:9367847-9367848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1062359	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1074159	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10853376	0.86[ASN][1000 genomes]
rs11081473	0.86[ASN][1000 genomes]
rs11081474	0.87[ASN][1000 genomes]
rs11873989	0.87[ASN][1000 genomes]
rs11875585	0.86[ASN][1000 genomes]
rs11875640	0.86[ASN][1000 genomes]
rs11876171	0.86[ASN][1000 genomes]
rs11876202	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs11878159	0.95[ASN][1000 genomes]
rs11878163	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12052039	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12604438	0.86[ASN][1000 genomes]
rs12956692	0.88[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs12959183	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12962014	0.88[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12962166	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12967229	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13285	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1443594	0.86[ASN][1000 genomes]
rs1443595	0.86[ASN][1000 genomes]
rs1443599	0.87[ASN][1000 genomes]
rs1605473	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1605474	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2028655	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2048146	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2120317	0.86[ASN][1000 genomes]
rs2298545	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2298550	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs35584133	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3786173	0.88[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3859293	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4567794	0.88[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4797366	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4798794	0.86[ASN][1000 genomes]
rs4798797	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4798801	0.94[ASN][1000 genomes]
rs4798802	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4798804	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4798805	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4798806	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4798808	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57524426	0.85[ASN][1000 genomes]
rs62087478	0.95[ASN][1000 genomes]
rs6506652	0.86[ASN][1000 genomes]
rs6506653	0.86[ASN][1000 genomes]
rs6506654	0.88[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6506655	0.96[ASN][1000 genomes]
rs6506661	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7228819	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7230171	0.95[ASN][1000 genomes]
rs7230328	0.95[ASN][1000 genomes]
rs7233751	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs7233925	0.86[ASN][1000 genomes]
rs7234330	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7234762	0.88[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7236073	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7236396	0.95[ASN][1000 genomes]
rs7237136	0.93[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7237485	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7237850	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7239225	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7240798	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7242488	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7243376	0.95[ASN][1000 genomes]
rs7244054	0.94[ASN][1000 genomes]
rs7245034	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72948167	0.94[ASN][1000 genomes]
rs7846	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8085920	0.86[ASN][1000 genomes]
rs8085947	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8087892	0.88[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs8091045	0.85[JPT][hapmap]
rs8093045	0.95[ASN][1000 genomes]
rs8095060	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs8096911	0.87[ASN][1000 genomes]
rs8096988	0.85[ASN][1000 genomes]
rs8097654	0.87[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs8097838	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8099673	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs925100	0.88[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs9635818	0.83[ASN][1000 genomes]
rs9635819	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs9635873	0.83[ASN][1000 genomes]
rs965280	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9675975	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9944562	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9956536	0.88[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9957701	0.87[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9959183	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9963516	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9966961	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9967388	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[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
rs1605476	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9335400-9369400	Weak transcription	Pancreas	Pancrea
2	chr18:9335400-9371400	Weak transcription	Gastric	stomach
3	chr18:9335600-9372600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr18:9335800-9370200	Weak transcription	Adipose Nuclei	Adipose
5	chr18:9341000-9371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr18:9341200-9391400	Weak transcription	Liver	Liver
7	chr18:9341200-9403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:9344400-9404200	Weak transcription	Primary T cells from cord blood	blood
9	chr18:9345600-9377600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:9348600-9369600	Weak transcription	K562	blood
11	chr18:9354400-9380400	Weak transcription	NHLF	lung
12	chr18:9359400-9369200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr18:9359600-9369200	Weak transcription	Spleen	Spleen
14	chr18:9360400-9403000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr18:9360600-9374000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr18:9361600-9369000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr18:9361800-9380200	Weak transcription	Small Intestine	intestine
18	chr18:9362000-9369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:9362000-9380400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr18:9362400-9380000	Weak transcription	Brain Germinal Matrix	brain
21	chr18:9362800-9369200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr18:9362800-9374400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr18:9363200-9369600	Weak transcription	A549	lung
24	chr18:9363200-9369800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr18:9363200-9380200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr18:9363400-9369400	Weak transcription	Fetal Heart	heart
27	chr18:9364200-9370200	Strong transcription	Fetal Stomach	stomach
28	chr18:9364800-9369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr18:9364800-9409400	Weak transcription	Aorta	Aorta
30	chr18:9365400-9368200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:9365800-9372200	Weak transcription	Right Ventricle	heart
32	chr18:9366600-9368800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr18:9366600-9370400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:9366600-9374000	Weak transcription	Osteobl	bone
35	chr18:9366600-9375400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr18:9366600-9379800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:9366600-9380000	Weak transcription	Brain Angular Gyrus	brain
38	chr18:9366600-9380000	Weak transcription	Colon Smooth Muscle	Colon
39	chr18:9366600-9380200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr18:9366600-9380200	Weak transcription	Brain Anterior Caudate	brain
41	chr18:9366600-9380200	Weak transcription	Ovary	ovary
42	chr18:9366600-9380200	Weak transcription	HSMMtube	muscle
43	chr18:9366600-9380600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr18:9366600-9381000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:9366600-9389400	Weak transcription	HSMM	muscle
46	chr18:9366600-9390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr18:9366600-9390800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr18:9366600-9396200	Weak transcription	NH-A	brain
49	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
50	chr18:9366800-9368800	Weak transcription	HMEC	breast

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