Variant report

Variant	rs4800841
Chromosome Location	chr18:25653556-25653557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10502507	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1078501	1.00[MEX][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10853680	0.82[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs10853681	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11083245	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083246	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11083248	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1122356	0.82[CHB][hapmap]
rs11564297	1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11564308	0.81[CEU][hapmap];0.93[CHB][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs11564316	1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11564329	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11564330	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes]
rs11564332	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs11564393	0.86[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11564396	0.81[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11564397	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11564400	0.81[CEU][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11564405	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11564409	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11564412	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes]
rs11564413	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs11873053	0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12958882	0.88[EUR][1000 genomes]
rs1373136	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1373138	0.81[CEU][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1443450	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs1443451	0.81[CEU][hapmap];0.93[CHB][hapmap];0.88[EUR][1000 genomes]
rs1443453	0.82[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs17445875	0.88[EUR][1000 genomes]
rs17446001	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes]
rs17446316	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17462962	0.84[EUR][1000 genomes]
rs17463213	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17463233	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17463295	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17468531	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17468636	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468678	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap]
rs1808940	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1816825	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1838161	0.81[CEU][hapmap];0.93[CHB][hapmap];0.88[EUR][1000 genomes]
rs1867285	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1941180	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes]
rs1944292	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1944294	0.81[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs1972934	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2053599	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2156605	0.81[CEU][hapmap];0.93[CHB][hapmap];0.88[EUR][1000 genomes]
rs2218361	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs2310784	0.88[EUR][1000 genomes]
rs4144654	0.81[CEU][hapmap];0.93[CHB][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4598992	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]
rs4800837	0.82[EUR][1000 genomes]
rs4800838	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes]
rs4800839	0.81[CEU][hapmap];0.93[CHB][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs4800840	0.82[CHB][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.83[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]
rs694943	0.82[CHB][hapmap]
rs7230771	1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7237382	0.81[CEU][hapmap];0.85[YRI][hapmap]
rs72639459	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8087860	0.85[TSI][hapmap]
rs8091314	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8091763	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes]
rs8092004	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs874314	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs894679	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9635986	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9789154	0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9789221	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25643000-25655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:25644000-25655200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr18:25645000-25658200	Weak transcription	Fetal Brain Female	brain
4	chr18:25646200-25666400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:25646800-25653600	Weak transcription	HSMM	muscle
6	chr18:25646800-25654000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:25647000-25655200	Weak transcription	NH-A	brain
8	chr18:25647600-25655000	Weak transcription	Osteobl	bone
9	chr18:25649000-25653800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:25649600-25661400	Enhancers	Fetal Heart	heart
11	chr18:25650400-25654200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr18:25650600-25666800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:25651200-25654200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr18:25651200-25661800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:25651400-25655200	Weak transcription	Brain Angular Gyrus	brain
16	chr18:25651400-25655200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:25651400-25655400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr18:25651600-25655200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:25651600-25665200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:25651800-25655800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr18:25652000-25653600	Weak transcription	A549	lung
22	chr18:25652200-25653600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr18:25652200-25655000	Weak transcription	Brain Anterior Caudate	brain
24	chr18:25652200-25655200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr18:25652400-25654000	Weak transcription	Spleen	Spleen
26	chr18:25652400-25655000	Weak transcription	Brain Hippocampus Middle	brain
27	chr18:25652400-25655200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:25652400-25655200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr18:25652400-25655400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:25652400-25657000	Weak transcription	HUVEC	blood vessel
31	chr18:25652400-25659600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr18:25652400-25659600	Weak transcription	Right Atrium	heart
33	chr18:25652600-25653600	Weak transcription	Brain Germinal Matrix	brain
34	chr18:25652600-25653600	Weak transcription	Left Ventricle	heart
35	chr18:25652600-25653800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:25652600-25653800	Weak transcription	Brain Substantia Nigra	brain
37	chr18:25652600-25659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:25652600-25661800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr18:25652600-25663800	Weak transcription	Right Ventricle	heart
40	chr18:25653000-25654400	Enhancers	Liver	Liver
41	chr18:25653200-25654600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr18:25653200-25657200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr18:25653400-25654400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr18:25653400-25654400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr18:25653400-25656200	Enhancers	HepG2	liver

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