Variant report

Variant	rs2920447
Chromosome Location	chr18:25657785-25657786
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1078501	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11083248	0.82[CHB][hapmap]
rs1122356	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs1148376	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11564297	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11564316	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11564396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11564397	0.81[CHB][hapmap]
rs11564400	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11564409	0.94[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs11873053	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1220015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1220016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1220019	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1220146	0.86[CEU][hapmap]
rs1228419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1234682	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1373136	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1373138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17446316	0.96[ASN][1000 genomes]
rs17463295	0.82[CHB][hapmap]
rs17468531	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1816825	0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4800840	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs490820	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs500643	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs533602	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs539075	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs565509	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs568575	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs576467	0.86[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap]
rs584936	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs587526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs587613	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs597591	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs602819	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610906	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs614966	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs623234	0.85[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs643555	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs647733	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs656642	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs665651	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs665781	0.81[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs673008	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs683457	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs694943	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7230771	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7237382	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8087457	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs8087860	0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs8091314	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9635986	0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9789154	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25645000-25658200	Weak transcription	Fetal Brain Female	brain
2	chr18:25646200-25666400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:25649600-25661400	Enhancers	Fetal Heart	heart
4	chr18:25650600-25666800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:25651200-25661800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:25651600-25665200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:25652400-25659600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr18:25652400-25659600	Weak transcription	Right Atrium	heart
9	chr18:25652600-25659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:25652600-25661800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr18:25652600-25663800	Weak transcription	Right Ventricle	heart
12	chr18:25654000-25666000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:25654400-25660000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:25654600-25657800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr18:25655600-25659600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:25655600-25660800	Weak transcription	Left Ventricle	heart
17	chr18:25655800-25659800	Weak transcription	Brain Germinal Matrix	brain
18	chr18:25655800-25660800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr18:25655800-25690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:25656000-25658200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:25656000-25659600	Weak transcription	HSMM	muscle
22	chr18:25656200-25658000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr18:25656200-25658200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr18:25656200-25658200	Weak transcription	HSMMtube	muscle
25	chr18:25656200-25658400	Weak transcription	HepG2	liver
26	chr18:25656200-25663000	Weak transcription	Brain Angular Gyrus	brain
27	chr18:25656200-25663000	Weak transcription	Brain Anterior Caudate	brain
28	chr18:25656400-25658200	Weak transcription	Osteobl	bone
29	chr18:25656400-25662600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr18:25656800-25658600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:25657000-25657800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:25657200-25658000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr18:25657200-25658200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr18:25657200-25663800	Weak transcription	Brain Hippocampus Middle	brain
35	chr18:25657200-25666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr18:25657400-25658000	Enhancers	A549	lung
37	chr18:25657400-25658000	Weak transcription	NH-A	brain
38	chr18:25657400-25658400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:25657400-25658400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr18:25657400-25658400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr18:25657400-25658600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr18:25657400-25658800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr18:25657400-25659000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:25657400-25659000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr18:25657400-25663200	Weak transcription	Brain Substantia Nigra	brain
46	chr18:25657600-25658800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:25657600-25660200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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