Variant report

Variant	rs1789464
Chromosome Location	chr18:25713790-25713791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:25709085..25710676-chr18:25712480..25714365,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11564386	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11564387	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11564388	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11564390	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11564392	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1231234	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs1231238	0.80[YRI][hapmap]
rs1639387	0.80[YRI][hapmap]
rs17446484	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17446616	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes]
rs17446644	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17469008	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17494961	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2155765	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2155766	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2628604	0.80[YRI][hapmap]
rs28564564	0.88[EUR][1000 genomes]
rs28716460	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8094132	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs961497	0.80[YRI][hapmap]
rs9946601	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9950633	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9956424	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1789464	CDH2	cis	multi-tissue	Pritchard

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25696200-25727800	Weak transcription	HSMMtube	muscle
2	chr18:25696600-25715800	Weak transcription	HUVEC	blood vessel
3	chr18:25697800-25715600	Weak transcription	Dnd41	blood
4	chr18:25703800-25727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr18:25703800-25730000	Weak transcription	Aorta	Aorta
6	chr18:25705000-25727800	Weak transcription	Ovary	ovary
7	chr18:25705200-25727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:25708800-25714600	Weak transcription	HSMM	muscle
9	chr18:25708800-25719200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:25708800-25721400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:25709000-25714800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr18:25709000-25719600	Weak transcription	Osteobl	bone
13	chr18:25709000-25724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr18:25709200-25715800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:25709400-25727600	Weak transcription	A549	lung
16	chr18:25710200-25727600	Weak transcription	HepG2	liver
17	chr18:25710400-25726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr18:25710400-25726400	Weak transcription	Fetal Brain Female	brain
19	chr18:25710400-25727600	Weak transcription	Brain Anterior Caudate	brain
20	chr18:25710400-25727600	Weak transcription	Brain Substantia Nigra	brain
21	chr18:25710600-25725000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr18:25710600-25727400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr18:25710600-25731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr18:25710800-25714800	Weak transcription	NH-A	brain
25	chr18:25711800-25713800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:25712600-25728400	Weak transcription	Right Ventricle	heart
27	chr18:25712600-25730000	Weak transcription	Left Ventricle	heart
28	chr18:25712800-25713800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:25712800-25714800	Weak transcription	Right Atrium	heart
30	chr18:25712800-25728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:25713000-25714200	Weak transcription	Brain Germinal Matrix	brain
32	chr18:25713000-25722000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr18:25713000-25725000	Weak transcription	Liver	Liver
34	chr18:25713000-25727400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:25713200-25714400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr18:25713200-25714400	Weak transcription	Fetal Heart	heart
37	chr18:25713200-25719800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:25713200-25720200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr18:25713400-25716800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr18:25713600-25713800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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