Variant report

Variant	rs1228421
Chromosome Location	chr18:25692495-25692496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1220025	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];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1231268	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]
rs1443459	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1662735	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[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	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];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs766266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25687200-25699800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:25687400-25693000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr18:25687400-25696800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr18:25687600-25693000	Enhancers	Liver	Liver
5	chr18:25687600-25694200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:25687800-25693000	Enhancers	Brain Germinal Matrix	brain
7	chr18:25688000-25692800	Enhancers	Brain Hippocampus Middle	brain
8	chr18:25688000-25693200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:25688200-25693000	Enhancers	Brain Anterior Caudate	brain
10	chr18:25688200-25694000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr18:25688400-25693000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:25689800-25693000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:25689800-25693000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr18:25689800-25695600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr18:25690000-25692800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr18:25690200-25695000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:25690200-25695000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:25690400-25692600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr18:25690800-25695200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:25691000-25693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:25691000-25693800	Enhancers	NHLF	lung
22	chr18:25691000-25696600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:25691200-25692600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:25691200-25694600	Weak transcription	Right Ventricle	heart
25	chr18:25691200-25695000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:25691200-25695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:25691200-25695200	Weak transcription	Right Atrium	heart
28	chr18:25691400-25692600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr18:25691400-25692800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr18:25691400-25693200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:25691400-25695000	Weak transcription	Left Ventricle	heart
32	chr18:25691400-25696800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:25691400-25703400	Weak transcription	Fetal Brain Male	brain
34	chr18:25691600-25693200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:25691600-25695600	Enhancers	NHEK	skin
36	chr18:25691800-25692600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr18:25691800-25692800	Enhancers	Brain Substantia Nigra	brain
38	chr18:25692000-25692600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:25692000-25692600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr18:25692000-25692800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:25692000-25693000	Flanking Active TSS	A549	lung
42	chr18:25692000-25694400	Enhancers	HepG2	liver
43	chr18:25692200-25692600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:25692200-25692600	Flanking Active TSS	Osteobl	bone
45	chr18:25692200-25692800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:25692200-25692800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:25692200-25692800	Enhancers	Aorta	Aorta
48	chr18:25692200-25692800	Flanking Active TSS	Fetal Heart	heart
49	chr18:25692200-25693000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr18:25692200-25693000	Enhancers	Brain Inferior Temporal Lobe	brain

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