Variant report

Variant	rs8097848
Chromosome Location	chr18:9211013-9211014
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9204077..9208041-chr18:9208940..9212355,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12150725	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12958093	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17413793	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1893198	0.93[ASN][1000 genomes]
rs2155707	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28418978	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34310409	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34452937	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4131992	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4797361	0.95[ASN][1000 genomes]
rs4798782	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4798784	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4798786	0.96[ASN][1000 genomes]
rs4798788	0.84[ASN][1000 genomes]
rs4798791	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56317320	0.80[EUR][1000 genomes]
rs6506649	0.93[ASN][1000 genomes]
rs7228251	0.86[EUR][1000 genomes]
rs7232337	0.93[ASN][1000 genomes]
rs7506008	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7506291	0.93[ASN][1000 genomes]
rs8089693	0.96[ASN][1000 genomes]
rs894755	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9304033	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9304034	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9304036	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9944905	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9946468	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9946475	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9946695	0.95[ASN][1000 genomes]
rs9946852	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9948560	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9959998	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9960129	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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	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
5	nsv576446	chr18:9206003-9211269	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv961150	chr18:9207844-9212017	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8097848	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
2	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
3	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
4	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
5	chr18:9180200-9214200	Weak transcription	A549	lung
6	chr18:9181600-9214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr18:9183400-9211400	Weak transcription	Brain Germinal Matrix	brain
8	chr18:9183800-9225600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
11	chr18:9185400-9214200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:9185400-9223400	Weak transcription	Stomach Mucosa	stomach
13	chr18:9185600-9232400	Weak transcription	Colonic Mucosa	Colon
14	chr18:9185800-9215200	Weak transcription	Small Intestine	intestine
15	chr18:9186000-9214400	Weak transcription	Brain Angular Gyrus	brain
16	chr18:9187000-9221800	Weak transcription	Fetal Brain Male	brain
17	chr18:9188400-9214400	Weak transcription	Brain Anterior Caudate	brain
18	chr18:9188400-9233600	Weak transcription	Esophagus	oesophagus
19	chr18:9188600-9233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:9188800-9211600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:9188800-9218200	Weak transcription	Thymus	Thymus
22	chr18:9189200-9233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:9189400-9215000	Weak transcription	Aorta	Aorta
24	chr18:9192200-9215400	Weak transcription	Psoas Muscle	Psoas
25	chr18:9192200-9233600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:9192200-9284000	Weak transcription	NHEK	skin
27	chr18:9192400-9211600	Weak transcription	HMEC	breast
28	chr18:9192400-9214400	Weak transcription	Fetal Muscle Leg	muscle
29	chr18:9193000-9211400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr18:9193200-9211200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr18:9193400-9224800	Weak transcription	Lung	lung
32	chr18:9193400-9230600	Weak transcription	Fetal Stomach	stomach
33	chr18:9193800-9211600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:9194200-9211400	Weak transcription	NH-A	brain
35	chr18:9194800-9219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:9195200-9214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr18:9195800-9211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr18:9195800-9214400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:9196400-9211400	Weak transcription	HUVEC	blood vessel
40	chr18:9197400-9211200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr18:9199200-9224800	Weak transcription	Fetal Intestine Small	intestine
42	chr18:9200400-9214600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:9200800-9214200	Weak transcription	HepG2	liver
44	chr18:9201000-9211200	Weak transcription	Fetal Kidney	kidney
45	chr18:9201000-9232000	Weak transcription	Brain Substantia Nigra	brain
46	chr18:9201200-9232800	Weak transcription	Gastric	stomach
47	chr18:9201400-9222200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr18:9201600-9220400	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:9201800-9211800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr18:9201800-9221800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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