Variant report

Variant	rs9807630
Chromosome Location	chr18:9414901-9414902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9403620..9407006-chr18:9414651..9419488,7	K562	blood:
2	chr18:9407863..9410773-chr18:9414131..9417031,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11878163	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs12957042	1.00[ASN][1000 genomes]
rs12959183	0.80[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap]
rs12967229	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs13285	0.80[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs1605476	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs2048146	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs2298545	0.80[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs2298550	0.80[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs2864495	1.00[ASN][1000 genomes]
rs2902769	1.00[ASN][1000 genomes]
rs2902770	0.99[ASN][1000 genomes]
rs4511599	1.00[ASN][1000 genomes]
rs4798802	0.80[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap]
rs4798804	0.80[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs4798808	0.82[ASN][1000 genomes]
rs4798809	0.90[ASN][1000 genomes]
rs4798811	0.91[ASN][1000 genomes]
rs55689225	0.99[ASN][1000 genomes]
rs55768953	0.95[ASN][1000 genomes]
rs56050864	0.99[ASN][1000 genomes]
rs56250732	0.99[ASN][1000 genomes]
rs57067414	0.97[ASN][1000 genomes]
rs60386349	0.99[ASN][1000 genomes]
rs6506661	0.80[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs6506664	0.99[ASN][1000 genomes]
rs7236073	0.80[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap]
rs7237136	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs7237485	0.80[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs7241911	1.00[ASN][1000 genomes]
rs7242510	1.00[ASN][1000 genomes]
rs7245034	0.80[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs8083047	0.99[ASN][1000 genomes]
rs8083076	0.99[ASN][1000 genomes]
rs8083517	0.98[ASN][1000 genomes]
rs8083656	0.99[ASN][1000 genomes]
rs8083841	0.99[ASN][1000 genomes]
rs8083857	0.99[ASN][1000 genomes]
rs8085860	1.00[ASN][1000 genomes]
rs8087049	1.00[ASN][1000 genomes]
rs8087096	1.00[ASN][1000 genomes]
rs8090819	1.00[ASN][1000 genomes]
rs8090820	1.00[ASN][1000 genomes]
rs8090974	1.00[ASN][1000 genomes]
rs8091539	0.99[ASN][1000 genomes]
rs8094918	0.97[ASN][1000 genomes]
rs8094970	0.99[ASN][1000 genomes]
rs8096335	0.99[ASN][1000 genomes]
rs8096501	0.99[ASN][1000 genomes]
rs8096789	0.99[ASN][1000 genomes]
rs9966510	0.99[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9807630	TWSG1	cis	multi-tissue	Pritchard
rs9807630	SEH1L	cis	cerebellum	SCAN
rs9807630	MPPE1	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9397200-9416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr18:9397800-9416600	Weak transcription	HSMM	muscle
3	chr18:9400600-9416600	Weak transcription	Brain Anterior Caudate	brain
4	chr18:9404000-9416800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr18:9405000-9417000	Weak transcription	Right Atrium	heart
6	chr18:9405600-9417400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:9413000-9415000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr18:9413200-9415000	Enhancers	HUVEC	blood vessel
9	chr18:9413400-9415600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr18:9414000-9415600	Weak transcription	Fetal Lung	lung
11	chr18:9414000-9416000	Weak transcription	Fetal Stomach	stomach
12	chr18:9414000-9416600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:9414000-9416600	Weak transcription	Fetal Kidney	kidney
14	chr18:9414000-9416600	Weak transcription	NH-A	brain
15	chr18:9414200-9416600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:9414200-9416600	Weak transcription	Osteobl	bone
17	chr18:9414400-9416200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:9414400-9416600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:9414400-9416600	Weak transcription	HSMMtube	muscle
20	chr18:9414400-9416600	Weak transcription	NHDF-Ad	bronchial
21	chr18:9414800-9415000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr18:9414800-9420200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:9414800-9422200	Enhancers	Fetal Muscle Leg	muscle

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