Variant report

Variant	rs1231234
Chromosome Location	chr18:25727386-25727387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:25725957..25728565-chr18:25735891..25737665,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11564387	0.88[YRI][hapmap]
rs11564388	0.88[YRI][hapmap]
rs11564390	0.88[YRI][hapmap]
rs11564392	0.88[YRI][hapmap]
rs1231233	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1231238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes]
rs1231239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];0.82[AFR][1000 genomes]
rs1639387	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes]
rs17446484	0.88[YRI][hapmap]
rs17446644	0.88[YRI][hapmap]
rs17469008	0.88[YRI][hapmap]
rs17494961	0.88[YRI][hapmap]
rs1789464	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs2155765	0.85[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap]
rs2628604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes]
rs8094132	0.88[YRI][hapmap]
rs961497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes]
rs9950633	0.88[YRI][hapmap]
rs9956424	0.88[YRI][hapmap]
rs9958671	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]

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
rs1231234	CDH2	cis	multi-tissue	Pritchard

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25696200-25727800	Weak transcription	HSMMtube	muscle
2	chr18:25703800-25727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr18:25703800-25730000	Weak transcription	Aorta	Aorta
4	chr18:25705000-25727800	Weak transcription	Ovary	ovary
5	chr18:25705200-25727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:25709400-25727600	Weak transcription	A549	lung
7	chr18:25710200-25727600	Weak transcription	HepG2	liver
8	chr18:25710400-25727600	Weak transcription	Brain Anterior Caudate	brain
9	chr18:25710400-25727600	Weak transcription	Brain Substantia Nigra	brain
10	chr18:25710600-25727400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:25710600-25731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr18:25712600-25728400	Weak transcription	Right Ventricle	heart
13	chr18:25712600-25730000	Weak transcription	Left Ventricle	heart
14	chr18:25712800-25728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:25713000-25727400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:25714800-25727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:25716400-25727400	Weak transcription	HUVEC	blood vessel
18	chr18:25716800-25730400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:25717600-25727600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:25717600-25753400	Weak transcription	Dnd41	blood
21	chr18:25720800-25730000	Weak transcription	Fetal Kidney	kidney
22	chr18:25721400-25730000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:25722200-25727600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:25724000-25732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:25724000-25732800	Weak transcription	Gastric	stomach
26	chr18:25724200-25727800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:25725000-25729800	Enhancers	Fetal Heart	heart
28	chr18:25725000-25731600	Enhancers	Liver	Liver
29	chr18:25725400-25727400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:25725400-25727400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr18:25725600-25727600	Weak transcription	NH-A	brain
32	chr18:25725600-25731000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:25726000-25739200	Weak transcription	HSMM	muscle
34	chr18:25726000-25745400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr18:25726400-25728200	Enhancers	Fetal Brain Male	brain
36	chr18:25726600-25729200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr18:25726800-25727600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr18:25726800-25727600	Weak transcription	Fetal Brain Female	brain
39	chr18:25726800-25731000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr18:25727000-25727400	Weak transcription	Brain Angular Gyrus	brain
41	chr18:25727000-25727600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:25727000-25727800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr18:25727000-25729200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr18:25727000-25730000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr18:25727000-25731000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr18:25727200-25727400	Weak transcription	Brain Germinal Matrix	brain
47	chr18:25727200-25728800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr18:25727200-25728800	Enhancers	Osteobl	bone
49	chr18:25727200-25731000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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