Variant report

Variant	rs1220025
Chromosome Location	chr18:25682035-25682036
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:9)

rs_ID	r²[population]
rs1220024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1231235	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1231268	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]
rs1443459	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1662735	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17536132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1785835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs766266	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];0.94[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
rs1220025	CABYR	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25655800-25690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:25668200-25688000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:25670400-25687800	Weak transcription	Brain Germinal Matrix	brain
4	chr18:25670600-25690000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:25672000-25688000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:25673000-25688400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:25673600-25687400	Weak transcription	HepG2	liver
8	chr18:25675200-25688400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr18:25676000-25685000	Weak transcription	NH-A	brain
10	chr18:25676200-25688400	Weak transcription	Osteobl	bone
11	chr18:25677200-25687200	Weak transcription	Fetal Brain Female	brain
12	chr18:25678200-25685200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:25678800-25684400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:25678800-25687600	Weak transcription	Liver	Liver
15	chr18:25679000-25682200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:25679000-25688200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:25679800-25682200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:25680400-25688400	Weak transcription	HSMM	muscle
19	chr18:25680600-25688000	Weak transcription	Left Ventricle	heart
20	chr18:25680800-25686800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:25681200-25682200	Enhancers	Fetal Heart	heart
22	chr18:25681400-25687400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr18:25681600-25683800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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