Variant report

Variant	rs1231268
Chromosome Location	chr18:25690011-25690012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1015847	0.94[LWK][hapmap]
rs1220024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1220025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1228421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231235	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1443459	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1662735	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17536132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1785835	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1941384	0.94[LWK][hapmap]
rs766266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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
rs1231268	CABYR	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25655800-25690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:25687200-25699800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:25687400-25690400	Enhancers	Fetal Heart	heart
4	chr18:25687400-25693000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr18:25687400-25696800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr18:25687600-25690200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr18:25687600-25693000	Enhancers	Liver	Liver
8	chr18:25687600-25694200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr18:25687800-25692400	Enhancers	Fetal Brain Female	brain
10	chr18:25687800-25693000	Enhancers	Brain Germinal Matrix	brain
11	chr18:25688000-25691200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:25688000-25691400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr18:25688000-25691400	Enhancers	Brain Substantia Nigra	brain
14	chr18:25688000-25691600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:25688000-25692800	Enhancers	Brain Hippocampus Middle	brain
16	chr18:25688000-25693200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:25688200-25693000	Enhancers	Brain Anterior Caudate	brain
18	chr18:25688200-25694000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr18:25688400-25690600	Enhancers	Osteobl	bone
20	chr18:25688400-25691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:25688400-25691400	Weak transcription	Fetal Intestine Small	intestine
22	chr18:25688400-25691600	Weak transcription	Fetal Intestine Large	intestine
23	chr18:25688400-25691800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr18:25688400-25692000	Enhancers	HSMM	muscle
25	chr18:25688400-25692200	Enhancers	NH-A	brain
26	chr18:25688400-25693000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:25688600-25690200	Weak transcription	Left Ventricle	heart
28	chr18:25689000-25690800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:25689200-25691000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:25689200-25692000	Enhancers	A549	lung
31	chr18:25689200-25692000	Weak transcription	HepG2	liver
32	chr18:25689400-25691200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:25689600-25691000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr18:25689800-25690400	Enhancers	Fetal Lung	lung
35	chr18:25689800-25691000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:25689800-25691000	Enhancers	Brain Angular Gyrus	brain
37	chr18:25689800-25691400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr18:25689800-25691400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr18:25689800-25691400	Enhancers	Fetal Brain Male	brain
40	chr18:25689800-25691600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:25689800-25693000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr18:25689800-25693000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr18:25689800-25695600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr18:25690000-25690200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:25690000-25690200	Enhancers	NHLF	lung
46	chr18:25690000-25690400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr18:25690000-25690600	Enhancers	HSMMtube	muscle
48	chr18:25690000-25691000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr18:25690000-25691400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr18:25690000-25691400	Enhancers	H9 Cell Line	embryonic stem cell

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