Variant report

Variant	rs1114591
Chromosome Location	chr18:9285824-9285825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9257452..9259305-chr18:9285325..9287150,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1046483	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10502391	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11659948	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12326829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1443597	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1443598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16954886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16954905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16954914	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17413344	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17498752	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs17498969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17499116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1899668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2120316	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2298548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs28520663	0.93[ASN][1000 genomes]
rs28578690	0.82[ASN][1000 genomes]
rs28619483	1.00[ASN][1000 genomes]
rs28637808	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864515	0.89[ASN][1000 genomes]
rs28820062	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28844999	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3213925	0.93[ASN][1000 genomes]
rs3744822	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3744823	0.93[ASN][1000 genomes]
rs4356535	0.93[ASN][1000 genomes]
rs4449017	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4490062	0.89[ASN][1000 genomes]
rs5011606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs56996721	0.89[ASN][1000 genomes]
rs57567668	1.00[ASN][1000 genomes]
rs58350342	0.86[ASN][1000 genomes]
rs59018067	0.93[ASN][1000 genomes]
rs59616258	0.93[ASN][1000 genomes]
rs59633812	0.93[ASN][1000 genomes]
rs59864974	1.00[ASN][1000 genomes]
rs60119987	0.93[ASN][1000 genomes]
rs60143204	0.89[ASN][1000 genomes]
rs60354371	0.93[ASN][1000 genomes]
rs62085951	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506651	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7229105	0.89[ASN][1000 genomes]
rs7234017	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7235358	0.93[ASN][1000 genomes]
rs7237039	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7242002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7242624	0.86[CEU][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72935260	0.82[ASN][1000 genomes]
rs72935263	0.82[ASN][1000 genomes]
rs72935265	0.82[ASN][1000 genomes]
rs72935266	0.82[ASN][1000 genomes]
rs72935267	0.82[ASN][1000 genomes]
rs72935274	0.86[ASN][1000 genomes]
rs72937244	0.89[ASN][1000 genomes]
rs72937245	0.89[ASN][1000 genomes]
rs72937248	0.89[ASN][1000 genomes]
rs72937250	0.89[ASN][1000 genomes]
rs72937258	0.93[ASN][1000 genomes]
rs72937259	0.93[ASN][1000 genomes]
rs72937263	0.93[ASN][1000 genomes]
rs72937267	0.93[ASN][1000 genomes]
rs72937270	0.93[ASN][1000 genomes]
rs72937287	0.93[ASN][1000 genomes]
rs72937291	0.93[ASN][1000 genomes]
rs72937297	0.93[ASN][1000 genomes]
rs72937301	0.93[ASN][1000 genomes]
rs72937302	0.93[ASN][1000 genomes]
rs72939207	0.93[ASN][1000 genomes]
rs72939211	0.93[ASN][1000 genomes]
rs72939216	0.93[ASN][1000 genomes]
rs72939219	0.93[ASN][1000 genomes]
rs72939220	0.93[ASN][1000 genomes]
rs72939221	0.93[ASN][1000 genomes]
rs72939224	0.93[ASN][1000 genomes]
rs72939227	0.93[ASN][1000 genomes]
rs72939230	0.93[ASN][1000 genomes]
rs72939231	0.93[ASN][1000 genomes]
rs72939232	0.93[ASN][1000 genomes]
rs72939235	0.93[ASN][1000 genomes]
rs72939239	0.93[ASN][1000 genomes]
rs7505002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7506375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7506561	0.86[ASN][1000 genomes]
rs8089057	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8094979	0.86[ASN][1000 genomes]
rs8096630	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8098516	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8098544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8099583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[ASN][1000 genomes]
rs9652921	0.86[ASN][1000 genomes]
rs9675513	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs9748485	0.89[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	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1114591	TWSG1	cis	multi-tissue	Pritchard

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9216000-9289600	Weak transcription	HMEC	breast
2	chr18:9234800-9290000	Weak transcription	NHLF	lung
3	chr18:9265000-9286000	Weak transcription	K562	blood
4	chr18:9265200-9286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr18:9265400-9286800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:9265400-9287200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr18:9265600-9288400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:9265600-9289600	Weak transcription	Esophagus	oesophagus
9	chr18:9265600-9291200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:9265600-9292400	Weak transcription	Aorta	Aorta
11	chr18:9265600-9298200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:9265800-9286800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:9265800-9290000	Weak transcription	HSMMtube	muscle
14	chr18:9273400-9286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr18:9276600-9288400	Weak transcription	Ovary	ovary
16	chr18:9278400-9287400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr18:9278600-9290200	Weak transcription	HepG2	liver
18	chr18:9279000-9288200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr18:9279400-9290000	Weak transcription	Fetal Lung	lung
20	chr18:9280400-9286400	Weak transcription	Fetal Brain Male	brain
21	chr18:9280600-9292400	Weak transcription	Pancreas	Pancrea
22	chr18:9280600-9293000	Weak transcription	Fetal Muscle Leg	muscle
23	chr18:9280800-9286200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr18:9280800-9290000	Weak transcription	Fetal Stomach	stomach
25	chr18:9281000-9286000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr18:9281000-9286000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:9281200-9286000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr18:9281200-9286400	Weak transcription	Primary T cells from cord blood	blood
29	chr18:9281200-9287000	Weak transcription	Left Ventricle	heart
30	chr18:9281200-9287400	Weak transcription	Brain Anterior Caudate	brain
31	chr18:9281200-9287600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:9281200-9289600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr18:9281200-9290000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:9281200-9292400	Weak transcription	Lung	lung
35	chr18:9281200-9292600	Weak transcription	Thymus	Thymus
36	chr18:9281400-9286000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr18:9281400-9287200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr18:9281400-9290400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr18:9281600-9290200	Weak transcription	Placenta	Placenta
40	chr18:9281800-9287400	Weak transcription	NHDF-Ad	bronchial
41	chr18:9282000-9292800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr18:9283000-9292200	Weak transcription	HSMM	muscle
43	chr18:9283200-9290000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr18:9283400-9286000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:9283400-9289800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr18:9284000-9288400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr18:9284200-9286800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr18:9284200-9292600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr18:9284400-9286400	Weak transcription	Adipose Nuclei	Adipose
50	chr18:9284400-9286800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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