Variant report

Variant	rs525524
Chromosome Location	chr18:25626061-25626062
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr18:25625909-25626187	IMR90	lung:	n/a	chr18:25626054-25626064
2	BACH1	chr18:25625915-25626189	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr18:25625866-25626203	SK-N-SH	brain:	n/a	n/a
4	MAFK	chr18:25625983-25626115	H1-hESC	embryonic stem cell:	n/a	chr18:25626054-25626064
5	POLR2A	chr18:25625889-25626199	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
CDH2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11564318	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11564411	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1228420	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17493423	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17493576	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17493744	1.00[EUR][1000 genomes]
rs17493926	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17494136	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17522229	1.00[CEU][hapmap]
rs17522236	0.88[EUR][1000 genomes]
rs17522285	1.00[CEU][hapmap]
rs17522436	0.82[EUR][1000 genomes]
rs488190	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs635726	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8090262	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25617000-25628800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr18:25618400-25631600	Weak transcription	Fetal Brain Male	brain
3	chr18:25620400-25627400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:25620400-25627600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:25620400-25629200	Weak transcription	Left Ventricle	heart
6	chr18:25621600-25628200	Weak transcription	Fetal Brain Female	brain
7	chr18:25621800-25628200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:25623600-25627600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:25623600-25627600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:25624400-25627400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr18:25624800-25626200	Enhancers	Brain Anterior Caudate	brain
12	chr18:25624800-25627400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:25624800-25627400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr18:25625000-25626200	Enhancers	Fetal Heart	heart
15	chr18:25625000-25626600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr18:25625000-25627400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr18:25625200-25626200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr18:25625200-25626200	Enhancers	Brain Angular Gyrus	brain
19	chr18:25625200-25626200	Enhancers	Brain Germinal Matrix	brain
20	chr18:25625200-25626200	Enhancers	A549	lung
21	chr18:25625200-25626200	Enhancers	Osteobl	bone
22	chr18:25625400-25626200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:25625400-25626200	Enhancers	Brain Substantia Nigra	brain
24	chr18:25625400-25626200	Enhancers	HSMM	muscle
25	chr18:25625600-25626200	Flanking Active TSS	NH-A	brain
26	chr18:25625800-25628400	Weak transcription	Liver	Liver
27	chr18:25625800-25628400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr18:25625800-25628400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr18:25625800-25628600	Weak transcription	Fetal Kidney	kidney
30	chr18:25625800-25628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr18:25625800-25630800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:25625800-25643400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:25625800-25650400	Weak transcription	Right Atrium	heart
34	chr18:25626000-25626200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr18:25626000-25626200	Enhancers	Brain Hippocampus Middle	brain
36	chr18:25626000-25626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr18:25626000-25627400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr18:25626000-25627400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr18:25626000-25627800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr18:25626000-25628200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr18:25626000-25628400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr18:25626000-25628600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr18:25626000-25629800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr18:25626000-25643200	Weak transcription	HUVEC	blood vessel

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