Variant report

Variant	rs17468261
Chromosome Location	chr18:25599854-25599855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11083244	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11083247	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11564295	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11564298	0.90[CEU][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11564398	0.87[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11564401	0.82[CEU][hapmap]
rs11564403	0.87[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11564410	0.86[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11564414	1.00[CEU][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]
rs11564418	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11664205	1.00[CEU][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]
rs11664343	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12454980	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12956425	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12957702	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12957780	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12971156	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550662	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17468213	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17468415	0.87[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17468443	0.87[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17468699	0.87[CEU][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25583800-25621400	Weak transcription	Right Ventricle	heart
2	chr18:25589800-25611000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:25592400-25611000	Weak transcription	Brain Germinal Matrix	brain
4	chr18:25593600-25612000	Weak transcription	HUVEC	blood vessel
5	chr18:25593800-25612600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr18:25595200-25602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:25595200-25603800	Weak transcription	NH-A	brain
8	chr18:25595200-25615000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:25597800-25600200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:25599000-25600000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:25599000-25600000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr18:25599000-25600000	Enhancers	HSMM	muscle
13	chr18:25599000-25600200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:25599000-25600600	Enhancers	Liver	Liver
15	chr18:25599200-25603000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:25599200-25612000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:25599200-25612000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr18:25599400-25600000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:25599400-25600000	Enhancers	Osteobl	bone
20	chr18:25599400-25600200	Enhancers	HMEC	breast
21	chr18:25599400-25600800	Enhancers	A549	lung
22	chr18:25599600-25610600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr18:25599800-25600200	Enhancers	HepG2	liver
24	chr18:25599800-25600200	Enhancers	NHEK	skin
25	chr18:25599800-25607400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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