Variant report

Variant	rs539075
Chromosome Location	chr18:25613439-25613440
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10502507	0.81[CHB][hapmap]
rs1078501	1.00[CHB][hapmap]
rs11083246	0.81[CHB][hapmap]
rs11083248	0.87[CHB][hapmap]
rs1122356	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1148376	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs11564297	1.00[CHB][hapmap]
rs11564308	0.87[CHB][hapmap]
rs11564316	1.00[CHB][hapmap]
rs11564329	0.87[CHB][hapmap]
rs11564330	0.81[CHB][hapmap]
rs11564393	0.81[CHB][hapmap]
rs11564396	1.00[CHB][hapmap]
rs11564397	0.86[CHB][hapmap]
rs11564400	0.93[CHB][hapmap]
rs11564409	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11564412	0.81[CHB][hapmap]
rs11564413	0.81[CHB][hapmap]
rs11873053	1.00[CHB][hapmap]
rs1220015	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs1220016	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs1220019	0.88[CEU][hapmap]
rs1220146	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1228419	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs1234682	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs1238755	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1373136	1.00[CHB][hapmap]
rs1373138	1.00[CHB][hapmap]
rs1443450	0.81[CHB][hapmap]
rs1443451	0.87[CHB][hapmap]
rs17446001	0.81[CHB][hapmap]
rs17463213	0.87[CHB][hapmap]
rs17463233	0.81[CHB][hapmap]
rs17463295	0.87[CHB][hapmap]
rs17468531	1.00[CHB][hapmap]
rs17468636	0.81[CHB][hapmap]
rs1808940	0.81[CHB][hapmap]
rs1816825	0.93[CHB][hapmap]
rs1838161	0.87[CHB][hapmap]
rs1944292	0.87[CHB][hapmap]
rs1944294	0.86[CHB][hapmap]
rs2053599	0.81[CHB][hapmap]
rs2156605	0.87[CHB][hapmap]
rs2218361	0.81[CHB][hapmap]
rs2920447	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs4144654	0.87[CHB][hapmap]
rs4800840	0.93[CHB][hapmap]
rs490820	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs500643	0.87[CEU][hapmap];0.93[CHB][hapmap]
rs533602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs565509	0.88[CEU][hapmap];0.93[CHB][hapmap]
rs568575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs576467	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs584936	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs587526	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs587613	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs597591	0.84[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs602819	0.88[CEU][hapmap];0.93[CHB][hapmap]
rs610906	0.88[CEU][hapmap]
rs614966	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs623234	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs643555	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs647733	0.88[CEU][hapmap];0.93[CHB][hapmap]
rs656642	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs665651	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs665781	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs673008	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs683457	0.88[CEU][hapmap]
rs694943	0.88[CEU][hapmap];0.93[CHB][hapmap]
rs7230771	1.00[CHB][hapmap]
rs7237382	1.00[CHB][hapmap]
rs8087457	0.96[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8087860	0.93[CHB][hapmap]
rs8091314	1.00[CHB][hapmap]
rs8091763	0.81[CHB][hapmap]
rs8092004	0.81[CHB][hapmap]
rs9635986	0.93[CHB][hapmap]
rs9789154	0.93[CHB][hapmap]

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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25583800-25621400	Weak transcription	Right Ventricle	heart
2	chr18:25595200-25615000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:25600000-25619000	Weak transcription	HSMM	muscle
4	chr18:25609800-25621600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr18:25610600-25615000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:25611400-25615800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr18:25612000-25614800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:25612000-25615800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr18:25612400-25614800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:25612400-25619000	Weak transcription	Brain Germinal Matrix	brain
11	chr18:25612600-25616600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr18:25612800-25614600	Weak transcription	NH-A	brain
13	chr18:25612800-25616400	Weak transcription	Osteobl	bone
14	chr18:25612800-25618200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:25612800-25618200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:25612800-25619000	Weak transcription	A549	lung
17	chr18:25613000-25614800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr18:25613000-25616400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr18:25613000-25617800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:25613200-25614400	Enhancers	Fetal Heart	heart
21	chr18:25613400-25617600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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