Variant report

Variant	rs4131992
Chromosome Location	chr18:9191420-9191421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9110356..9113174-chr18:9191057..9192849,2	K562	blood:
2	chr18:9189637..9191991-chr18:9193161..9195966,2	K562	blood:
3	chr18:9186304..9188662-chr18:9189391..9191819,2	K562	blood:
4	chr18:9182719..9184745-chr18:9190563..9192792,3	K562	blood:
5	chr18:9191112..9193775-chr18:9197771..9201381,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11661711	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap]
rs12150725	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12958093	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17413793	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1893198	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2155707	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28418978	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34310409	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34452937	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4078337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4130178	0.82[CHB][hapmap]
rs4148967	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4603624	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4797356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs4797361	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4798766	0.82[CEU][hapmap]
rs4798772	1.00[JPT][hapmap]
rs4798776	0.94[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4798778	0.96[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs4798782	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4798784	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798786	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4798788	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4798791	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56317320	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6506644	0.82[CHB][hapmap]
rs6506649	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7228251	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.97[MKK][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7229883	0.82[CHB][hapmap]
rs7232337	0.93[ASN][1000 genomes]
rs7235514	0.82[CHB][hapmap]
rs7238828	1.00[YRI][hapmap]
rs7504603	0.95[CEU][hapmap];0.85[JPT][hapmap]
rs7506008	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7506291	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8083078	0.82[CHB][hapmap]
rs8087306	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs8089693	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs8092613	0.82[CHB][hapmap]
rs8097848	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs874250	0.86[CHB][hapmap]
rs894755	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs906807	0.82[CHB][hapmap]
rs9304033	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9304034	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9304036	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9652952	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs977581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs9944905	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9945360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9946176	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs9946468	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9946475	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9946695	0.91[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs9946852	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9947027	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs9948560	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9959998	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9960129	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4131992	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 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	chr18:9174200-9191800	Weak transcription	Fetal Stomach	stomach
6	chr18:9174200-9192000	Weak transcription	HMEC	breast
7	chr18:9174400-9191800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
9	chr18:9174800-9191800	Weak transcription	Lung	lung
10	chr18:9174800-9211000	Weak transcription	Hela-S3	cervix
11	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
12	chr18:9176600-9195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
14	chr18:9180200-9214200	Weak transcription	A549	lung
15	chr18:9181000-9194800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:9181000-9194800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr18:9181200-9199800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr18:9181600-9214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr18:9181800-9191600	Weak transcription	NHEK	skin
20	chr18:9182600-9194600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr18:9182600-9198600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:9183400-9211400	Weak transcription	Brain Germinal Matrix	brain
23	chr18:9183800-9225600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr18:9184000-9194800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr18:9184800-9200800	Weak transcription	Gastric	stomach
27	chr18:9185000-9192000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:9185200-9200800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
30	chr18:9185400-9195600	Weak transcription	Osteobl	bone
31	chr18:9185400-9214200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr18:9185400-9223400	Weak transcription	Stomach Mucosa	stomach
33	chr18:9185600-9211000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr18:9185600-9232400	Weak transcription	Colonic Mucosa	Colon
35	chr18:9185800-9192200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr18:9185800-9194800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr18:9185800-9195600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr18:9185800-9200400	Weak transcription	Brain Hippocampus Middle	brain
39	chr18:9185800-9215200	Weak transcription	Small Intestine	intestine
40	chr18:9186000-9195800	Weak transcription	HepG2	liver
41	chr18:9186000-9203800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr18:9186000-9214400	Weak transcription	Brain Angular Gyrus	brain
43	chr18:9186200-9191800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr18:9186600-9192000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr18:9186600-9200000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr18:9186800-9200800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr18:9187000-9197600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr18:9187000-9199800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr18:9187000-9221800	Weak transcription	Fetal Brain Male	brain
50	chr18:9187200-9191800	Weak transcription	Fetal Intestine Small	intestine

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