Variant report

Variant	rs4800289
Chromosome Location	chr18:25730814-25730815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10853682	1.00[JPT][hapmap]
rs11083249	1.00[JPT][hapmap]
rs11083250	1.00[JPT][hapmap]
rs11083252	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564299	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564310	1.00[JPT][hapmap]
rs11564336	1.00[JPT][hapmap]
rs11564341	1.00[JPT][hapmap]
rs11564381	1.00[JPT][hapmap]
rs11661487	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11872284	1.00[JPT][hapmap]
rs11874384	1.00[JPT][hapmap]
rs11874478	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185349	1.00[JPT][hapmap]
rs12454164	1.00[JPT][hapmap]
rs12457737	1.00[JPT][hapmap]
rs12457781	1.00[JPT][hapmap]
rs12458418	1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12953509	1.00[JPT][hapmap]
rs12956036	1.00[JPT][hapmap]
rs12959867	1.00[JPT][hapmap]
rs12960181	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443449	1.00[JPT][hapmap]
rs17446505	1.00[JPT][hapmap]
rs17446547	1.00[JPT][hapmap]
rs17446875	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468924	1.00[JPT][hapmap]
rs17469001	1.00[JPT][hapmap]
rs17469371	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17469385	1.00[YRI][hapmap]
rs17536472	1.00[JPT][hapmap]
rs1860642	1.00[JPT][hapmap]
rs1944288	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067772	1.00[JPT][hapmap]
rs2191636	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4800842	1.00[JPT][hapmap]
rs6508526	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719723	1.00[JPT][hapmap]
rs7243759	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089347	1.00[JPT][hapmap]
rs8091862	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095341	1.00[JPT][hapmap]

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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25710600-25731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr18:25717600-25753400	Weak transcription	Dnd41	blood
3	chr18:25724000-25732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:25724000-25732800	Weak transcription	Gastric	stomach
5	chr18:25725000-25731600	Enhancers	Liver	Liver
6	chr18:25725600-25731000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:25726000-25739200	Weak transcription	HSMM	muscle
8	chr18:25726000-25745400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr18:25726800-25731000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:25727000-25731000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr18:25727200-25731000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr18:25727800-25732200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:25728000-25731000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:25728000-25731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:25728000-25737400	Weak transcription	Fetal Lung	lung
16	chr18:25728200-25732200	Weak transcription	Fetal Brain Male	brain
17	chr18:25728200-25732400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:25728200-25739200	Weak transcription	HepG2	liver
19	chr18:25728400-25732000	Enhancers	Right Ventricle	heart
20	chr18:25728600-25731000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:25728600-25731000	Weak transcription	Brain Hippocampus Middle	brain
22	chr18:25728600-25731000	Weak transcription	Ovary	ovary
23	chr18:25728800-25731000	Weak transcription	Brain Angular Gyrus	brain
24	chr18:25728800-25731000	Weak transcription	Brain Anterior Caudate	brain
25	chr18:25728800-25731000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr18:25728800-25731400	Weak transcription	NH-A	brain
27	chr18:25728800-25732800	Weak transcription	Osteobl	bone
28	chr18:25728800-25754200	Weak transcription	HUVEC	blood vessel
29	chr18:25729200-25731000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr18:25729200-25731600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:25729200-25731600	Weak transcription	Fetal Brain Female	brain
32	chr18:25729200-25732000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr18:25729200-25732400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:25729200-25737800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:25729200-25739000	Weak transcription	A549	lung
36	chr18:25729400-25732600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:25729800-25732600	Enhancers	Brain Germinal Matrix	brain
38	chr18:25730000-25731400	Enhancers	Left Ventricle	heart
39	chr18:25730000-25732400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr18:25730000-25733000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr18:25730000-25735000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr18:25730000-25738000	Weak transcription	Fetal Stomach	stomach
43	chr18:25730200-25731800	Enhancers	Right Atrium	heart
44	chr18:25730200-25738000	Weak transcription	Aorta	Aorta
45	chr18:25730400-25731800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr18:25730400-25732000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:25730400-25736200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr18:25730400-25736400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr18:25730600-25731000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:25730600-25732400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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