Variant report

Variant	rs1944294
Chromosome Location	chr18:25616451-25616452
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10502506	0.87[CEU][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10502507	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1078501	0.82[CHB][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs10853680	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10853681	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11083245	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs11083246	0.81[CEU][hapmap];0.87[CHB][hapmap];0.90[EUR][1000 genomes]
rs11083248	0.81[CEU][hapmap];0.93[CHB][hapmap];0.91[EUR][1000 genomes]
rs1122356	0.82[MEX][hapmap];0.83[TSI][hapmap]
rs1148376	0.82[CHB][hapmap]
rs11564297	0.82[CHB][hapmap];0.80[TSI][hapmap];0.80[EUR][1000 genomes]
rs11564308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11564316	0.82[CHB][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs11564329	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs11564330	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11564332	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11564393	0.87[CHB][hapmap];0.84[EUR][1000 genomes]
rs11564396	0.80[TSI][hapmap]
rs11564397	0.81[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs11564405	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs11564409	0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs11564412	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11564413	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11873053	0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs1234682	0.82[CHB][hapmap]
rs12958882	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1373136	0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs1443450	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1443451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1443453	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17445875	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17446001	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17462962	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17463213	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs17463233	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[EUR][1000 genomes]
rs17463295	0.81[CEU][hapmap];0.93[CHB][hapmap];0.91[EUR][1000 genomes]
rs17468531	0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs17468636	0.81[CEU][hapmap];0.93[CHB][hapmap];0.93[EUR][1000 genomes]
rs17468678	0.87[CEU][hapmap];0.87[CHB][hapmap]
rs1808940	0.80[CEU][hapmap];0.87[CHB][hapmap];0.90[EUR][1000 genomes]
rs1816825	0.80[TSI][hapmap]
rs1838161	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];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1867285	0.94[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1941180	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1944292	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs1972934	0.82[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2053599	0.94[CEU][hapmap];0.93[CHB][hapmap];0.92[EUR][1000 genomes]
rs2156605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2218361	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2310784	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4144654	1.00[CEU][hapmap];1.00[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];0.98[ASN][1000 genomes]
rs4598992	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]
rs4800837	0.94[CEU][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes]
rs4800838	0.94[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4800839	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4800840	0.81[EUR][1000 genomes]
rs4800841	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]
rs490820	0.88[AMR][1000 genomes]
rs533602	0.82[CHB][hapmap]
rs539075	0.86[CHB][hapmap]
rs568575	0.82[CHB][hapmap];0.87[AMR][1000 genomes]
rs587613	0.82[CHB][hapmap]
rs665651	0.82[CHB][hapmap]
rs673008	0.91[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes]
rs7230771	0.82[CHB][hapmap];0.80[TSI][hapmap]
rs72639459	0.88[EUR][1000 genomes]
rs8091763	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8092004	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs874314	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs894679	0.81[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs9789154	0.81[EUR][1000 genomes]
rs9789221	0.94[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.83[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25583800-25621400	Weak transcription	Right Ventricle	heart
2	chr18:25600000-25619000	Weak transcription	HSMM	muscle
3	chr18:25609800-25621600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:25612400-25619000	Weak transcription	Brain Germinal Matrix	brain
5	chr18:25612600-25616600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr18:25612800-25618200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:25612800-25618200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:25612800-25619000	Weak transcription	A549	lung
9	chr18:25613000-25617800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:25613400-25617600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:25614000-25618000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr18:25614200-25618200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:25614400-25618000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr18:25614600-25616600	Enhancers	NH-A	brain
15	chr18:25614600-25617400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr18:25614800-25618000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr18:25615000-25616800	Weak transcription	Brain Angular Gyrus	brain
18	chr18:25615000-25617000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:25615000-25617000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr18:25615200-25617000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr18:25615200-25617800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr18:25615200-25618400	Enhancers	Fetal Heart	heart
23	chr18:25615200-25624600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr18:25615400-25616600	Weak transcription	Brain Substantia Nigra	brain
25	chr18:25615600-25616600	Weak transcription	Brain Anterior Caudate	brain
26	chr18:25615800-25617000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:25615800-25617200	Enhancers	Brain Hippocampus Middle	brain
28	chr18:25616000-25616600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:25616000-25616800	Enhancers	Fetal Kidney	kidney
30	chr18:25616000-25618200	Enhancers	Fetal Brain Female	brain
31	chr18:25616200-25616600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:25616200-25616800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr18:25616400-25616600	Enhancers	Liver	Liver
34	chr18:25616400-25616800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr18:25616400-25617000	Active TSS	Osteobl	bone
36	chr18:25616400-25617200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:25616400-25617400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr18:25616400-25617400	Enhancers	Brain Cingulate Gyrus	brain
39	chr18:25616400-25618400	Enhancers	Fetal Brain Male	brain

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