Variant report

Variant	rs4598992
Chromosome Location	chr18:25586565-25586566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10502506	0.87[CEU][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10502507	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs1078501	0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs10853680	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10853681	0.82[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs11083245	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs11083246	0.81[CEU][hapmap];0.93[CHB][hapmap];0.90[EUR][1000 genomes]
rs11083248	0.81[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs1122356	0.82[CHB][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes]
rs11564297	0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs11564308	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11564316	0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs11564329	0.94[CEU][hapmap];0.93[CHB][hapmap];0.92[EUR][1000 genomes]
rs11564330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11564332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11564393	0.93[CHB][hapmap];0.84[EUR][1000 genomes]
rs11564396	0.84[TSI][hapmap]
rs11564397	0.82[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs11564405	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs11564409	0.80[EUR][1000 genomes]
rs11564412	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11564413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11873053	0.80[EUR][1000 genomes]
rs12958882	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1373136	0.80[EUR][1000 genomes]
rs1443450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1443451	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1443453	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17445875	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17446001	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17462962	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17463213	0.94[CEU][hapmap];0.93[CHB][hapmap];0.92[EUR][1000 genomes]
rs17463233	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs17463295	0.81[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs17468531	0.80[EUR][1000 genomes]
rs17468636	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs17468678	0.87[CEU][hapmap];0.93[CHB][hapmap]
rs1808940	0.80[CEU][hapmap];0.93[CHB][hapmap];0.90[EUR][1000 genomes]
rs1816825	0.82[CHB][hapmap];0.84[TSI][hapmap]
rs1838161	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1867285	0.82[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs1941180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1944292	0.94[CEU][hapmap];0.93[CHB][hapmap];0.92[EUR][1000 genomes]
rs1944294	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1972934	0.82[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs2053599	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs2156605	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2218361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2310784	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4144654	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4800837	0.94[CEU][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4800838	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4800839	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4800840	0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs4800841	0.82[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs490820	0.82[CHB][hapmap]
rs500643	0.82[CHB][hapmap]
rs565509	0.82[CHB][hapmap]
rs576467	0.82[CHB][hapmap]
rs584936	0.82[CHB][hapmap]
rs597591	0.82[CHB][hapmap]
rs614966	0.82[CHB][hapmap]
rs623234	0.82[CHB][hapmap]
rs647733	0.82[CHB][hapmap]
rs656642	0.82[CHB][hapmap]
rs665781	0.82[CHB][hapmap]
rs673008	0.82[CHB][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs694943	0.82[CHB][hapmap]
rs7230771	0.84[TSI][hapmap]
rs72639459	0.88[EUR][1000 genomes]
rs8091763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8092004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs874314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894679	0.82[ASW][hapmap];0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs9789154	0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs9789221	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1066192	chr18:25454413-25606736	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv543669	chr18:25454413-25606736	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv833605	chr18:25467096-25643447	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv3427571	chr18:25586204-25588502	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
2	chr18:25545600-25588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:25553000-25593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:25556200-25586800	Weak transcription	Spleen	Spleen
5	chr18:25556200-25592800	Weak transcription	Aorta	Aorta
6	chr18:25556200-25595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:25564800-25591400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr18:25565000-25592800	Weak transcription	A549	lung
9	chr18:25565200-25591800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:25571600-25588800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:25572800-25589800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:25573000-25590000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:25573600-25591200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr18:25573600-25593400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr18:25575600-25591400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr18:25577000-25591000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:25577600-25589800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:25578200-25591400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:25579200-25591400	Weak transcription	HepG2	liver
20	chr18:25580600-25593400	Weak transcription	Ovary	ovary
21	chr18:25580600-25595800	Weak transcription	Left Ventricle	heart
22	chr18:25580800-25589600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:25582400-25588400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr18:25582400-25593200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr18:25582600-25594000	Weak transcription	Dnd41	blood
26	chr18:25583600-25588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr18:25583600-25599000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:25583800-25593600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:25583800-25621400	Weak transcription	Right Ventricle	heart
30	chr18:25584200-25592400	Weak transcription	Brain Angular Gyrus	brain
31	chr18:25584400-25594200	Weak transcription	Brain Anterior Caudate	brain
32	chr18:25584400-25595000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr18:25585200-25587600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr18:25585200-25592800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:25585400-25587400	Strong transcription	NH-A	brain
36	chr18:25585400-25593400	Weak transcription	Fetal Brain Male	brain
37	chr18:25585600-25587400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr18:25585600-25587800	Weak transcription	HUVEC	blood vessel
39	chr18:25585600-25591400	Weak transcription	Fetal Lung	lung
40	chr18:25585600-25592400	Weak transcription	Brain Hippocampus Middle	brain
41	chr18:25585600-25593400	Weak transcription	HSMMtube	muscle
42	chr18:25585800-25591200	Weak transcription	HSMM	muscle
43	chr18:25585800-25594000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr18:25586000-25589600	Weak transcription	Fetal Brain Female	brain
45	chr18:25586200-25587600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr18:25586200-25588000	Weak transcription	Liver	Liver
47	chr18:25586200-25589600	Weak transcription	Fetal Heart	heart
48	chr18:25586200-25591400	Weak transcription	Brain Germinal Matrix	brain
49	chr18:25586400-25587200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:25586400-25587200	Weak transcription	Osteobl	bone

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