Variant report

Variant	rs1231239
Chromosome Location	chr18:25748133-25748134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1231233	1.00[CEU][hapmap]
rs1231234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];0.82[AFR][1000 genomes]
rs1231238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1639387	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17446616	1.00[YRI][hapmap]
rs2155765	0.95[LWK][hapmap]
rs2628604	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs961497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9945393	0.84[ASW][hapmap]
rs9946601	1.00[YRI][hapmap]
rs9958671	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.85[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	chr18:25717600-25753400	Weak transcription	Dnd41	blood
2	chr18:25728800-25754200	Weak transcription	HUVEC	blood vessel
3	chr18:25734600-25748200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:25734800-25749200	Weak transcription	Fetal Kidney	kidney
5	chr18:25738800-25754200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr18:25739400-25751800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr18:25741200-25753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:25742400-25751800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:25742600-25751800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:25742600-25754200	Weak transcription	Brain Angular Gyrus	brain
11	chr18:25742800-25749800	Weak transcription	Right Ventricle	heart
12	chr18:25742800-25755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:25743000-25751600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr18:25743400-25753200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr18:25743600-25750400	Weak transcription	Left Ventricle	heart
16	chr18:25744800-25749000	Strong transcription	NH-A	brain
17	chr18:25744800-25754200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:25745000-25753800	Weak transcription	HSMM	muscle
19	chr18:25745200-25749200	Weak transcription	Fetal Brain Female	brain
20	chr18:25746200-25751400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:25746600-25752000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr18:25747200-25748800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:25747200-25749000	Weak transcription	Brain Germinal Matrix	brain
24	chr18:25747200-25753600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr18:25747400-25748600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:25747400-25749400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr18:25747400-25751600	Enhancers	Fetal Heart	heart
28	chr18:25747400-25751800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:25747600-25748400	Enhancers	Brain Anterior Caudate	brain
30	chr18:25747600-25753800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:25747800-25748200	Active TSS	Fetal Intestine Small	intestine
32	chr18:25747800-25748200	Active TSS	HepG2	liver
33	chr18:25747800-25748400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr18:25747800-25748400	Active TSS	Right Atrium	heart
35	chr18:25747800-25748800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:25747800-25749000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr18:25747800-25749200	Enhancers	Osteobl	bone
38	chr18:25748000-25748200	Active TSS	Liver	Liver
39	chr18:25748000-25748200	Enhancers	A549	lung
40	chr18:25748000-25748400	Active TSS	Fetal Intestine Large	intestine
41	chr18:25748000-25748800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:25748000-25751800	Weak transcription	Brain Cingulate Gyrus	brain

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