Variant report

Variant	rs28365327
Chromosome Location	chr18:25753552-25753553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1015847	0.85[CHB][hapmap]
rs10513896	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11083253	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11564339	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12605662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17446980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1789470	0.86[CHB][hapmap]
rs1941384	0.85[CHB][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28365327	CDH2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25728800-25754200	Weak transcription	HUVEC	blood vessel
2	chr18:25738800-25754200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr18:25742600-25754200	Weak transcription	Brain Angular Gyrus	brain
4	chr18:25742800-25755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:25744800-25754200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:25745000-25753800	Weak transcription	HSMM	muscle
7	chr18:25747200-25753600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr18:25747600-25753800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:25749000-25754000	Enhancers	HepG2	liver
10	chr18:25749800-25759200	Active TSS	Right Ventricle	heart
11	chr18:25750200-25754000	Weak transcription	Fetal Kidney	kidney
12	chr18:25752000-25754000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr18:25752000-25754000	Weak transcription	Brain Anterior Caudate	brain
14	chr18:25752000-25754200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr18:25752000-25754200	Active TSS	Fetal Brain Female	brain
16	chr18:25752000-25754600	Weak transcription	Brain Hippocampus Middle	brain
17	chr18:25752200-25754200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:25752200-25754200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr18:25752200-25754200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr18:25752200-25754200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr18:25752200-25754200	Weak transcription	Left Ventricle	heart
22	chr18:25752200-25755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:25752400-25759600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:25752600-25753800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:25752600-25755200	Flanking Active TSS	Liver	Liver
26	chr18:25752600-25759200	Active TSS	Right Atrium	heart
27	chr18:25752800-25753600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:25752800-25756600	Active TSS	Fetal Heart	heart
29	chr18:25753000-25753600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:25753000-25753600	Flanking Active TSS	NH-A	brain
31	chr18:25753000-25755400	Active TSS	Brain Germinal Matrix	brain
32	chr18:25753200-25753600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
33	chr18:25753200-25753600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr18:25753200-25753800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr18:25753200-25756200	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr18:25753200-25758600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr18:25753400-25753600	Enhancers	Brain Substantia Nigra	brain
38	chr18:25753400-25753600	Enhancers	Dnd41	blood
39	chr18:25753400-25754200	Active TSS	Fetal Brain Male	brain
40	chr18:25753400-25754200	Weak transcription	A549	lung
41	chr18:25753400-25754400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr18:25753400-25754400	Enhancers	Osteobl	bone
43	chr18:25753400-25759600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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