Variant report

Variant	rs4798784
Chromosome Location	chr18:9194214-9194215
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9189637..9191991-chr18:9193161..9195966,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12150725	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12958093	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17413793	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1893198	0.96[ASN][1000 genomes]
rs2155707	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28418978	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34310409	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34452937	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4131992	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4797361	1.00[ASN][1000 genomes]
rs4798782	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4798786	0.99[ASN][1000 genomes]
rs4798788	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4798791	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56317320	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6506649	0.95[ASN][1000 genomes]
rs7228251	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7232337	0.96[ASN][1000 genomes]
rs7506008	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7506291	0.98[ASN][1000 genomes]
rs7506347	0.80[AFR][1000 genomes]
rs8089693	0.99[ASN][1000 genomes]
rs8097848	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs894755	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9304033	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304036	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9944905	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9946468	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946475	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946695	1.00[ASN][1000 genomes]
rs9946852	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9948560	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9959998	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9960129	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[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	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	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	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
4	nsv1055696	chr18:9191679-9309805	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4798784	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9164400-9200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:9165600-9195400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
4	chr18:9173000-9208400	Weak transcription	NHLF	lung
5	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
6	chr18:9174800-9211000	Weak transcription	Hela-S3	cervix
7	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
8	chr18:9176600-9195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
10	chr18:9180200-9214200	Weak transcription	A549	lung
11	chr18:9181000-9194800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr18:9181000-9194800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:9181200-9199800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr18:9181600-9214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:9182600-9194600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr18:9182600-9198600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:9183400-9211400	Weak transcription	Brain Germinal Matrix	brain
18	chr18:9183800-9225600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr18:9184000-9194800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr18:9184800-9200800	Weak transcription	Gastric	stomach
22	chr18:9185200-9200800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
24	chr18:9185400-9195600	Weak transcription	Osteobl	bone
25	chr18:9185400-9214200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr18:9185400-9223400	Weak transcription	Stomach Mucosa	stomach
27	chr18:9185600-9211000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr18:9185600-9232400	Weak transcription	Colonic Mucosa	Colon
29	chr18:9185800-9194800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr18:9185800-9195600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr18:9185800-9200400	Weak transcription	Brain Hippocampus Middle	brain
32	chr18:9185800-9215200	Weak transcription	Small Intestine	intestine
33	chr18:9186000-9195800	Weak transcription	HepG2	liver
34	chr18:9186000-9203800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr18:9186000-9214400	Weak transcription	Brain Angular Gyrus	brain
36	chr18:9186600-9200000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr18:9186800-9200800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr18:9187000-9197600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr18:9187000-9199800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr18:9187000-9221800	Weak transcription	Fetal Brain Male	brain
41	chr18:9187200-9197200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:9187200-9201200	Strong transcription	GM12878-XiMat	blood
43	chr18:9187400-9200200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:9187400-9200800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr18:9188000-9198000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr18:9188200-9198400	Strong transcription	Liver	Liver
47	chr18:9188400-9195000	Weak transcription	Fetal Intestine Large	intestine
48	chr18:9188400-9214400	Weak transcription	Brain Anterior Caudate	brain
49	chr18:9188400-9233600	Weak transcription	Esophagus	oesophagus
50	chr18:9188600-9194800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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