Variant report

Variant	rs8087457
Chromosome Location	chr18:25617625-25617626
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:25574421..25577323-chr18:25616645..25618924,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1078501	0.88[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap]
rs1122356	0.81[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1148376	0.84[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap];0.80[ASN][1000 genomes]
rs11564297	0.88[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap]
rs11564316	0.88[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap]
rs11564396	0.81[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs11564400	0.81[JPT][hapmap]
rs11564409	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs11873053	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs1220015	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1220016	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1220019	0.85[CEU][hapmap]
rs1220146	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1228419	0.85[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs1234682	0.85[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1238755	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1373136	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs1373138	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs17468531	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs1816825	0.81[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap]
rs2920447	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs4800840	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs490820	0.81[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs500643	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs533602	0.88[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs539075	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]
rs565509	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs568575	0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs576467	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs584936	0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs587526	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs587613	0.85[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs597591	0.82[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs602819	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs610906	0.85[CEU][hapmap]
rs614966	0.85[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs623234	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs643555	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs647733	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs656642	0.81[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs665651	0.85[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap]
rs665781	0.96[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs673008	0.81[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs683457	0.85[CEU][hapmap]
rs694943	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7230771	0.88[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap]
rs7237382	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs8087860	0.88[CHD][hapmap]
rs8091314	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs9635986	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs9789154	0.81[CHB][hapmap];0.81[JPT][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:41 , 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	chr18:25612800-25618200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:25612800-25618200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:25612800-25619000	Weak transcription	A549	lung
8	chr18:25613000-25617800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:25614000-25618000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr18:25614200-25618200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr18:25614400-25618000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr18:25614800-25618000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr18:25615200-25617800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr18:25615200-25618400	Enhancers	Fetal Heart	heart
15	chr18:25615200-25624600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr18:25616000-25618200	Enhancers	Fetal Brain Female	brain
17	chr18:25616400-25618400	Enhancers	Fetal Brain Male	brain
18	chr18:25616800-25618000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:25616800-25625000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr18:25617000-25617800	Enhancers	NH-A	brain
21	chr18:25617000-25618600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:25617000-25619200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:25617000-25619400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:25617000-25620000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:25617000-25620400	Weak transcription	Osteobl	bone
26	chr18:25617000-25625000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr18:25617000-25628800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr18:25617200-25619800	Weak transcription	Brain Hippocampus Middle	brain
29	chr18:25617200-25621200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:25617400-25619000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr18:25617400-25619800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr18:25617400-25620200	Weak transcription	Brain Angular Gyrus	brain
33	chr18:25617400-25625000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:25617400-25625200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr18:25617600-25618200	Weak transcription	Left Ventricle	heart
36	chr18:25617600-25618400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:25617600-25619000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:25617600-25619000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:25617600-25619000	Weak transcription	Liver	Liver
40	chr18:25617600-25619000	Weak transcription	Brain Anterior Caudate	brain
41	chr18:25617600-25619800	Weak transcription	Brain Substantia Nigra	brain

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