Variant report

Variant	rs2053599
Chromosome Location	chr18:25640611-25640612
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	chr18:25634620..25637492-chr18:25639243..25641008,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10502506	0.81[CEU][hapmap]
rs10502507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1078501	0.83[CEU][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10853680	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs10853681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11083245	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083246	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083248	0.88[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1122356	0.82[CHB][hapmap]
rs11564297	0.83[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11564308	0.94[CEU][hapmap];0.94[CHB][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes]
rs11564316	0.83[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11564329	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11564330	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes]
rs11564332	0.94[CEU][hapmap];0.94[CHB][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes]
rs11564393	0.93[CHB][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11564396	0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11564397	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11564400	0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11564405	0.88[CEU][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11564409	0.83[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11564412	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.94[EUR][1000 genomes]
rs11564413	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes]
rs11873053	0.83[CEU][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12958882	0.92[EUR][1000 genomes]
rs1373136	0.83[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1373138	0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1443450	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs1443451	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[EUR][1000 genomes]
rs1443453	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs17445875	0.92[EUR][1000 genomes]
rs17446001	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.94[EUR][1000 genomes]
rs17446316	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17462962	0.88[EUR][1000 genomes]
rs17463213	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17463233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17463295	0.88[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17468531	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17468636	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17468678	0.93[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs1808940	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1816825	0.82[CHB][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1838161	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[EUR][1000 genomes]
rs1867285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1941180	0.94[CEU][hapmap];0.93[CHB][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes]
rs1944292	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1944294	0.94[CEU][hapmap];0.93[CHB][hapmap];0.92[EUR][1000 genomes]
rs1972934	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2156605	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[EUR][1000 genomes]
rs2218361	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs2310784	0.92[EUR][1000 genomes]
rs4144654	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[EUR][1000 genomes]
rs4598992	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs4800837	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs4800838	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes]
rs4800839	0.94[CEU][hapmap];0.94[CHB][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes]
rs4800840	0.83[CEU][hapmap];0.83[CHB][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4800841	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]
rs490820	0.83[CHB][hapmap]
rs500643	0.82[CHB][hapmap]
rs539075	0.81[CHB][hapmap]
rs565509	0.83[CHB][hapmap]
rs576467	0.83[CHB][hapmap]
rs597591	0.82[CHB][hapmap]
rs614966	0.82[CHB][hapmap]
rs623234	0.82[CHB][hapmap]
rs647733	0.83[CHB][hapmap]
rs656642	0.83[CHB][hapmap]
rs665781	0.82[CHB][hapmap]
rs673008	0.82[CHB][hapmap]
rs694943	0.83[CHB][hapmap]
rs7230771	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7237382	0.87[YRI][hapmap]
rs72639459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8091314	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8091763	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes]
rs8092004	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs874314	0.94[CEU][hapmap];0.93[CHB][hapmap];0.92[EUR][1000 genomes]
rs894679	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9635986	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9789154	0.83[CEU][hapmap];0.83[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9789221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25625800-25643400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:25625800-25650400	Weak transcription	Right Atrium	heart
3	chr18:25626000-25643200	Weak transcription	HUVEC	blood vessel
4	chr18:25627600-25645600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:25629400-25643000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:25630000-25643200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:25630000-25643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr18:25630200-25642400	Weak transcription	HSMM	muscle
9	chr18:25630800-25641200	Weak transcription	Left Ventricle	heart
10	chr18:25636400-25642600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:25636600-25643400	Weak transcription	HepG2	liver
12	chr18:25638200-25641200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:25638400-25643600	Weak transcription	Right Ventricle	heart
14	chr18:25639000-25641000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:25639200-25642800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr18:25639600-25642800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr18:25640200-25641200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:25640200-25642200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:25640400-25640800	Weak transcription	Fetal Heart	heart
20	chr18:25640600-25640800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:25640600-25641000	Weak transcription	NH-A	brain
22	chr18:25640600-25642600	Weak transcription	Osteobl	bone

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