Variant report

Variant	rs17469371
Chromosome Location	chr18:25752582-25752583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
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	0.95[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564299	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[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	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11872284	1.00[JPT][hapmap]
rs11874384	1.00[JPT][hapmap]
rs11874478	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[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];1.00[ASN][1000 genomes]
rs12953509	1.00[JPT][hapmap]
rs12956036	1.00[JPT][hapmap]
rs12959867	1.00[JPT][hapmap]
rs12960181	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443449	1.00[JPT][hapmap]
rs17446505	1.00[JPT][hapmap]
rs17446547	1.00[JPT][hapmap]
rs17446875	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]
rs17468924	1.00[JPT][hapmap]
rs17469001	1.00[JPT][hapmap]
rs17469385	1.00[YRI][hapmap]
rs17536472	1.00[JPT][hapmap]
rs1860642	1.00[JPT][hapmap]
rs1944288	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067772	1.00[JPT][hapmap]
rs2191636	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4800289	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]
rs4800842	1.00[JPT][hapmap]
rs6508526	0.95[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719723	1.00[JPT][hapmap]
rs7243759	0.95[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089347	1.00[JPT][hapmap]
rs8091862	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095341	1.00[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	nsv9622	chr18:25749905-26032816	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr18:25717600-25753400	Weak transcription	Dnd41	blood
2	chr18:25728800-25754200	Weak transcription	HUVEC	blood vessel
3	chr18:25738800-25754200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:25741200-25753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr18:25742600-25754200	Weak transcription	Brain Angular Gyrus	brain
6	chr18:25742800-25755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:25743400-25753200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr18:25744800-25754200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:25745000-25753800	Weak transcription	HSMM	muscle
10	chr18:25747200-25753600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr18:25747600-25753800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:25748400-25752600	Weak transcription	Right Atrium	heart
13	chr18:25749000-25752800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:25749000-25754000	Enhancers	HepG2	liver
15	chr18:25749200-25753400	Weak transcription	Osteobl	bone
16	chr18:25749800-25759200	Active TSS	Right Ventricle	heart
17	chr18:25750000-25752600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr18:25750200-25752800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:25750200-25752800	Weak transcription	A549	lung
20	chr18:25750200-25754000	Weak transcription	Fetal Kidney	kidney
21	chr18:25751400-25753000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:25751600-25752600	Enhancers	Liver	Liver
23	chr18:25751600-25753400	Enhancers	Fetal Brain Male	brain
24	chr18:25752000-25752600	Enhancers	Fetal Heart	heart
25	chr18:25752000-25753200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr18:25752000-25754000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr18:25752000-25754000	Weak transcription	Brain Anterior Caudate	brain
28	chr18:25752000-25754200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:25752000-25754200	Active TSS	Fetal Brain Female	brain
30	chr18:25752000-25754600	Weak transcription	Brain Hippocampus Middle	brain
31	chr18:25752200-25752600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:25752200-25753400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr18:25752200-25754200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:25752200-25754200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr18:25752200-25754200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr18:25752200-25754200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr18:25752200-25754200	Weak transcription	Left Ventricle	heart
38	chr18:25752200-25755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:25752400-25752600	Enhancers	Brain Germinal Matrix	brain
40	chr18:25752400-25752600	Active TSS	NH-A	brain
41	chr18:25752400-25759600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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