Variant report

Variant	rs1148380
Chromosome Location	chr18:25701837-25701838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1148377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148378	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1219964	0.81[AMR][1000 genomes]
rs1220020	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1220021	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1220023	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1220026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1220033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1220034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1220035	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1236172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468868	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[YRI][hapmap]
rs1785842	0.91[CHB][hapmap]
rs1785843	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25691400-25703400	Weak transcription	Fetal Brain Male	brain
2	chr18:25692200-25703200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr18:25692800-25703600	Weak transcription	Ovary	ovary
4	chr18:25693200-25703600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:25695400-25708400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr18:25695600-25703600	Weak transcription	Aorta	Aorta
7	chr18:25695600-25706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:25696200-25727800	Weak transcription	HSMMtube	muscle
9	chr18:25696600-25715800	Weak transcription	HUVEC	blood vessel
10	chr18:25696800-25703400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr18:25696800-25703600	Weak transcription	HSMM	muscle
12	chr18:25697000-25705600	Weak transcription	NHLF	lung
13	chr18:25697000-25708200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr18:25697400-25703600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr18:25697600-25703200	Weak transcription	Liver	Liver
16	chr18:25697800-25715600	Weak transcription	Dnd41	blood
17	chr18:25698200-25708000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:25700000-25702000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:25700000-25702400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:25700000-25702800	Weak transcription	Brain Anterior Caudate	brain
21	chr18:25700000-25703200	Weak transcription	Brain Hippocampus Middle	brain
22	chr18:25700000-25703400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr18:25700200-25703600	Weak transcription	Brain Substantia Nigra	brain
24	chr18:25700400-25702200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr18:25700600-25702400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr18:25700800-25702000	Enhancers	Right Ventricle	heart
27	chr18:25701000-25702600	Enhancers	Fetal Heart	heart
28	chr18:25701200-25702200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:25701200-25703200	Enhancers	Brain Germinal Matrix	brain
30	chr18:25701200-25703400	Weak transcription	Brain Angular Gyrus	brain
31	chr18:25701600-25702000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr18:25701600-25702000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:25701600-25702000	Enhancers	Left Ventricle	heart
34	chr18:25701600-25702000	Enhancers	Right Atrium	heart
35	chr18:25701600-25702200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr18:25701600-25702400	Strong transcription	NH-A	brain
37	chr18:25701600-25702800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:25701600-25703600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr18:25701800-25702600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:25701800-25703200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:25701800-25703200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr18:25701800-25703400	Weak transcription	Osteobl	bone

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