Variant report

Variant	rs482360
Chromosome Location	chr18:13137992-13137993
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10221326	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10221384	0.89[CEU][hapmap]
rs11080620	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11663049	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12605638	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12954256	0.92[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap]
rs12955780	0.88[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1474043	0.92[CEU][hapmap]
rs1786263	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1786270	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1786279	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1787000	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1787003	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1787004	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1787008	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1973779	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28619103	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28641764	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2902856	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35790309	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3809912	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs472702	0.92[CEU][hapmap]
rs472992	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs473580	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs474337	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs475139	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs478006	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4797730	0.85[YRI][hapmap]
rs482577	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs490853	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs491349	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs492458	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs492723	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs498685	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs518145	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs527839	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs529620	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs529954	0.88[YRI][hapmap]
rs547084	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs554719	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs554854	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs556371	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs556536	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs557846	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs562151	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs565832	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs567031	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs569453	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs570505	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs576963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs578208	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6505775	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6505776	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6505777	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6505780	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs692833	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs692964	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71353243	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7226616	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7229870	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7233600	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7233814	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7234094	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7234960	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7236162	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7237236	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7241536	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs7243660	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8088313	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8089123	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs8097038	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8097125	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9783859	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9783903	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9949589	0.96[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9949682	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap]
rs9961669	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9964466	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv515878	chr18:13122618-13142415	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3388823	chr18:13135977-13138825	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs482360	CEP192	cis	Thyroid	GTEx
rs482360	CEP192	cis	lung	GTEx
rs482360	CEP192	cis	Esophagus Mucosa	GTEx
rs482360	CEP192	cis	Artery Aorta	GTEx
rs482360	CEP192	cis	Heart Left Ventricle	GTEx
rs482360	CEP192	cis	Temporal Cortex	GTEx
rs482360	CEP192	cis	Artery Tibial	GTEx
rs482360	CEP192	cis	Stomach	GTEx
rs482360	CEP192	cis	Esophagus Muscularis	GTEx
rs482360	CEP192	Cis_1M	lymphoblastoid	RTeQTL
rs482360	CEP192	cis	Whole Blood	GTEx
rs482360	CEP192	cis	Brain Pons	GTEx
rs482360	CEP192	cis	Skin Sun Exposed Lower leg	GTEx
rs482360	CEP192	cis	Adipose Subcutaneous	GTEx
rs482360	CEP192	cis	Nerve Tibial	GTEx
rs482360	CEP192	cis	multi-tissue	Pritchard

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13135800-13138600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr18:13135800-13138800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr18:13136200-13138200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr18:13136200-13138400	Active TSS	Liver	Liver
5	chr18:13136200-13138800	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr18:13136400-13138000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr18:13136400-13138000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr18:13136400-13138000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:13136400-13138000	Active TSS	Brain Cingulate Gyrus	brain
10	chr18:13136400-13138000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr18:13136400-13138000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr18:13136400-13138000	Active TSS	Right Atrium	heart
13	chr18:13136400-13138000	Active TSS	NHDF-Ad	bronchial
14	chr18:13136400-13138200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
15	chr18:13136400-13138400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr18:13136400-13138400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr18:13136400-13138400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr18:13136400-13138400	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr18:13136400-13138400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr18:13136400-13138400	Active TSS	Ovary	ovary
21	chr18:13136400-13138400	Active TSS	Rectal Smooth Muscle	rectum
22	chr18:13136400-13138600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:13136400-13138600	Active TSS	Brain Anterior Caudate	brain
24	chr18:13136400-13145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:13136600-13138000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:13136600-13138000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr18:13136600-13138000	Active TSS	Gastric	stomach
28	chr18:13136600-13138000	Active TSS	Psoas Muscle	Psoas
29	chr18:13136600-13138000	Active TSS	Right Ventricle	heart
30	chr18:13136600-13138000	Active TSS	Small Intestine	intestine
31	chr18:13136600-13138000	Bivalent/Poised TSS	NHLF	lung
32	chr18:13136600-13138200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr18:13136600-13138400	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr18:13136600-13138600	Active TSS	Duodenum Mucosa	Duodenum
35	chr18:13136800-13138000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:13136800-13138000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr18:13136800-13138000	Active TSS	Left Ventricle	heart
38	chr18:13136800-13138000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr18:13136800-13138000	Active TSS	Spleen	Spleen
40	chr18:13136800-13138000	Active TSS	HSMMtube	muscle
41	chr18:13136800-13138200	Active TSS	GM12878-XiMat	blood
42	chr18:13136800-13138400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr18:13136800-13138400	Active TSS	Dnd41	blood
44	chr18:13136800-13138600	Active TSS	A549	lung
45	chr18:13137000-13138000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr18:13137000-13138000	Active TSS	Lung	lung
47	chr18:13137000-13138000	Active TSS	Pancreas	Pancrea
48	chr18:13137000-13138000	Flanking Bivalent TSS/Enh	NHEK	skin
49	chr18:13137000-13138200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr18:13137000-13138600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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