Variant report

Variant	rs1220033
Chromosome Location	chr18:25705720-25705721
allele	G/T
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];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148378	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148380	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]
rs1148381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[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];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1220021	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1220023	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1220026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1220034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[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];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468868	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs1785842	0.91[CHB][hapmap]
rs1785843	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25695400-25708400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:25695600-25706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:25696200-25727800	Weak transcription	HSMMtube	muscle
4	chr18:25696600-25715800	Weak transcription	HUVEC	blood vessel
5	chr18:25697000-25708200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:25697800-25715600	Weak transcription	Dnd41	blood
7	chr18:25698200-25708000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:25702000-25708400	Weak transcription	Left Ventricle	heart
9	chr18:25702000-25708400	Weak transcription	Right Ventricle	heart
10	chr18:25702000-25712000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:25703200-25705800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:25703200-25707400	Enhancers	Liver	Liver
13	chr18:25703800-25706800	Weak transcription	Right Atrium	heart
14	chr18:25703800-25727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:25703800-25730000	Weak transcription	Aorta	Aorta
16	chr18:25704000-25708000	Enhancers	HepG2	liver
17	chr18:25704200-25708200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr18:25704800-25705800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:25704800-25708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr18:25704800-25710200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr18:25705000-25707800	Weak transcription	Brain Angular Gyrus	brain
22	chr18:25705000-25709800	Weak transcription	Brain Substantia Nigra	brain
23	chr18:25705000-25727800	Weak transcription	Ovary	ovary
24	chr18:25705200-25706200	Weak transcription	Fetal Brain Female	brain
25	chr18:25705200-25706600	Weak transcription	NH-A	brain
26	chr18:25705200-25707800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:25705200-25708000	Weak transcription	HSMM	muscle
28	chr18:25705200-25708400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:25705200-25708400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:25705200-25710000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:25705200-25710000	Weak transcription	Brain Anterior Caudate	brain
32	chr18:25705200-25710000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr18:25705200-25710200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr18:25705200-25710200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:25705200-25727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:25705400-25706200	Weak transcription	Fetal Brain Male	brain
37	chr18:25705400-25706600	Weak transcription	Brain Germinal Matrix	brain
38	chr18:25705400-25706800	Weak transcription	Fetal Heart	heart
39	chr18:25705400-25707600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:25705400-25707800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr18:25705400-25708000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr18:25705600-25705800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr18:25705600-25705800	Flanking Active TSS	A549	lung
44	chr18:25705600-25707600	Weak transcription	Osteobl	bone
45	chr18:25705600-25708800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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