Variant report

Variant	rs488190
Chromosome Location	chr18:25643010-25643011
allele	C/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:15)

rs_ID	r²[population]
rs11564318	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11564411	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1228420	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17493423	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17493576	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17493744	1.00[EUR][1000 genomes]
rs17493926	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17494136	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17522229	1.00[CEU][hapmap]
rs17522236	0.88[EUR][1000 genomes]
rs17522285	1.00[CEU][hapmap]
rs17522436	0.82[EUR][1000 genomes]
rs525524	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs635726	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8090262	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv833605	chr18:25467096-25643447	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr18:25625800-25643400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:25625800-25650400	Weak transcription	Right Atrium	heart
3	chr18:25626000-25643200	Weak transcription	HUVEC	blood vessel
4	chr18:25627600-25645600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:25630000-25643200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr18:25630000-25643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr18:25636600-25643400	Weak transcription	HepG2	liver
8	chr18:25638400-25643600	Weak transcription	Right Ventricle	heart
9	chr18:25641000-25643200	Enhancers	NH-A	brain
10	chr18:25641200-25645000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:25641400-25645000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:25641600-25643400	Weak transcription	Aorta	Aorta
13	chr18:25641600-25644200	Weak transcription	Left Ventricle	heart
14	chr18:25642000-25643200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr18:25642200-25643800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:25642400-25643600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:25642400-25646800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr18:25642400-25646800	Enhancers	HSMM	muscle
19	chr18:25642600-25643400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:25642600-25643600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr18:25642600-25643600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:25642600-25643800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr18:25642600-25643800	Enhancers	Brain Anterior Caudate	brain
24	chr18:25642600-25644000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr18:25642600-25644000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:25642600-25644000	Enhancers	Brain Substantia Nigra	brain
27	chr18:25642600-25644200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr18:25642600-25645000	Enhancers	Ovary	ovary
29	chr18:25642600-25645000	Enhancers	Osteobl	bone
30	chr18:25642600-25646200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:25642600-25646800	Enhancers	Fetal Heart	heart
32	chr18:25642800-25643200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:25642800-25643800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr18:25642800-25643800	Enhancers	Brain Angular Gyrus	brain
35	chr18:25642800-25644000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:25642800-25644000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:25642800-25644000	Enhancers	NHLF	lung
38	chr18:25642800-25644800	Enhancers	HSMMtube	muscle
39	chr18:25642800-25646200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr18:25642800-25647400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr18:25643000-25643200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr18:25643000-25643400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr18:25643000-25643800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr18:25643000-25645000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr18:25643000-25655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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