Variant report

Variant	rs1220154
Chromosome Location	chr18:25559158-25559159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1041985	0.91[CEU][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1220155	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.97[LWK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1220156	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1220157	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17522096	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[YRI][hapmap]
rs1785613	0.86[ASW][hapmap];0.95[GIH][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1785615	0.91[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2034108	0.96[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4363925	0.84[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs4413048	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2760473	chr18:25386088-25571466	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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
3	nsv1066192	chr18:25454413-25606736	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv543669	chr18:25454413-25606736	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
2	chr18:25536400-25578200	Weak transcription	Fetal Brain Male	brain
3	chr18:25536800-25574200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:25540200-25564600	Weak transcription	Ovary	ovary
5	chr18:25540800-25564400	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:25540800-25576400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:25542800-25574400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr18:25544400-25572400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:25545400-25564800	Weak transcription	HUVEC	blood vessel
10	chr18:25545600-25588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr18:25548800-25574600	Strong transcription	NH-A	brain
12	chr18:25549400-25574000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:25549600-25572000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:25550800-25564400	Weak transcription	A549	lung
15	chr18:25553000-25566200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:25553000-25593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr18:25553600-25560200	Weak transcription	Right Atrium	heart
18	chr18:25554400-25571000	Strong transcription	Osteobl	bone
19	chr18:25555000-25571600	Weak transcription	HSMMtube	muscle
20	chr18:25555400-25565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:25555600-25559200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:25555600-25574200	Weak transcription	Brain Anterior Caudate	brain
23	chr18:25555800-25562000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr18:25556000-25563200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:25556200-25574600	Weak transcription	Brain Angular Gyrus	brain
26	chr18:25556200-25586800	Weak transcription	Spleen	Spleen
27	chr18:25556200-25592800	Weak transcription	Aorta	Aorta
28	chr18:25556200-25595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:25556400-25559200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:25556400-25563200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr18:25556400-25569600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:25556400-25576400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:25556400-25584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:25556600-25561000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:25556600-25564400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:25556600-25564600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr18:25556600-25564600	Weak transcription	HepG2	liver
38	chr18:25556800-25559400	Weak transcription	Liver	Liver
39	chr18:25556800-25560800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr18:25556800-25562800	Weak transcription	HSMM	muscle
41	chr18:25556800-25563200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr18:25557000-25559200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:25557000-25561800	Weak transcription	Fetal Brain Female	brain
44	chr18:25557000-25561800	Weak transcription	Dnd41	blood
45	chr18:25557200-25575000	Weak transcription	Gastric	stomach
46	chr18:25557400-25559800	Weak transcription	Brain Germinal Matrix	brain
47	chr18:25557600-25559400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr18:25558000-25571200	Weak transcription	Fetal Intestine Large	intestine
49	chr18:25558400-25563200	Weak transcription	Left Ventricle	heart
50	chr18:25558400-25564000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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