Variant report

Variant	rs9967388
Chromosome Location	chr18:9351606-9351607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9351096..9353244-chr18:9355745..9358612,2	K562	blood:
2	chr18:9351286..9353025-chr18:9353787..9355705,3	K562	blood:
3	chr18:9351096..9353244-chr18:9355745..9359443,3	K562	blood:
4	chr18:9334775..9336689-chr18:9351214..9352717,2	K562	blood:

Variant related genes	Relation type
ENSG00000128791	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1074159	0.83[ASN][1000 genomes]
rs10853376	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10853379	0.81[ASN][1000 genomes]
rs11081473	1.00[ASN][1000 genomes]
rs11081474	0.93[ASN][1000 genomes]
rs11873989	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11875585	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11875640	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11876171	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11876202	0.90[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11878159	0.85[ASN][1000 genomes]
rs11878163	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs12052039	0.82[ASN][1000 genomes]
rs12604438	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12956692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12959183	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs12962014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12962166	0.83[ASN][1000 genomes]
rs12967229	0.84[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs13285	0.84[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1443594	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1443595	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1443599	0.99[ASN][1000 genomes]
rs1605473	0.82[ASN][1000 genomes]
rs1605474	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs1605476	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2028654	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2028655	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2048146	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2120317	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298545	0.84[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2298550	0.83[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35584133	0.87[ASN][1000 genomes]
rs3786173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3859293	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4567794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4797362	0.80[ASN][1000 genomes]
rs4797366	0.81[ASN][1000 genomes]
rs4798794	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4798797	0.85[ASN][1000 genomes]
rs4798801	0.83[ASN][1000 genomes]
rs4798802	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4798804	0.84[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs4798805	0.82[ASN][1000 genomes]
rs4798806	0.80[ASN][1000 genomes]
rs57524426	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62087478	0.85[ASN][1000 genomes]
rs6506652	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6506653	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6506654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506655	0.87[ASN][1000 genomes]
rs6506661	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7228819	0.83[ASN][1000 genomes]
rs7230171	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7230328	0.85[ASN][1000 genomes]
rs7233751	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7233925	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7234330	0.83[ASN][1000 genomes]
rs7234762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7236073	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7236396	0.85[ASN][1000 genomes]
rs7237136	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7237485	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs7237850	0.88[ASN][1000 genomes]
rs7239225	0.83[ASN][1000 genomes]
rs7240798	0.83[ASN][1000 genomes]
rs7242488	0.81[ASN][1000 genomes]
rs7243376	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7244054	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7245034	0.84[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs72948167	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8085920	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8085947	0.80[ASN][1000 genomes]
rs8087892	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8091045	0.91[JPT][hapmap]
rs8093045	0.85[ASN][1000 genomes]
rs8095060	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8096911	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8096988	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8097654	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8097838	0.83[ASN][1000 genomes]
rs8099673	0.82[ASN][1000 genomes]
rs925100	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9635818	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9635819	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs9635873	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs965280	0.83[ASN][1000 genomes]
rs9675975	0.83[ASN][1000 genomes]
rs9944562	0.83[ASN][1000 genomes]
rs9956536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9957701	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9959183	0.81[ASN][1000 genomes]
rs9963516	0.84[ASN][1000 genomes]
rs9966961	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
rs9967388	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 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	chr18:9335600-9366200	Weak transcription	Left Ventricle	heart
4	chr18:9335600-9372600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:9335800-9357600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:9335800-9366200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:9335800-9367600	Weak transcription	Fetal Thymus	thymus
8	chr18:9335800-9367600	Weak transcription	Lung	lung
9	chr18:9335800-9370200	Weak transcription	Adipose Nuclei	Adipose
10	chr18:9336000-9355600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:9336000-9366200	Weak transcription	Brain Angular Gyrus	brain
12	chr18:9336200-9361400	Weak transcription	Aorta	Aorta
13	chr18:9338200-9354400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr18:9338400-9361600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr18:9338400-9366200	Weak transcription	Brain Anterior Caudate	brain
16	chr18:9338800-9366000	Weak transcription	Brain Hippocampus Middle	brain
17	chr18:9339600-9365600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:9341000-9371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr18:9341200-9361400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:9341200-9366400	Weak transcription	Brain Substantia Nigra	brain
21	chr18:9341200-9367400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:9341200-9391400	Weak transcription	Liver	Liver
23	chr18:9341200-9403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr18:9341400-9366200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:9344000-9366000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr18:9344000-9367400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr18:9344200-9361400	Weak transcription	Brain Germinal Matrix	brain
28	chr18:9344200-9367600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr18:9344200-9367800	Weak transcription	Primary B cells from cord blood	blood
30	chr18:9344400-9360600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:9344400-9404200	Weak transcription	Primary T cells from cord blood	blood
32	chr18:9344800-9360200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:9345000-9361800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:9345200-9367400	Weak transcription	Fetal Brain Female	brain
35	chr18:9345600-9367000	Weak transcription	Fetal Intestine Large	intestine
36	chr18:9345600-9367400	Weak transcription	Placenta	Placenta
37	chr18:9345600-9377600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr18:9346600-9361400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr18:9346800-9361400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr18:9346800-9361400	Weak transcription	Fetal Muscle Leg	muscle
41	chr18:9348400-9353000	Weak transcription	Fetal Stomach	stomach
42	chr18:9348600-9353600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:9348600-9359000	Weak transcription	Ovary	ovary
44	chr18:9348600-9360600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr18:9348600-9360600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr18:9348600-9361400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr18:9348600-9361400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr18:9348600-9362600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr18:9348600-9365600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr18:9348600-9369600	Weak transcription	K562	blood

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