Variant report

Variant	rs17495264
Chromosome Location	chr18:25741266-25741267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:25741255-25741281	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	18:25739208-25741005..18:25741005-25741912	H1-hESC	embryonic stem cell:	embryo
2	chr18:25740858..25743576-chr18:25744029..25745634,2	MCF-7	breast:

Variant related genes	Relation type
CDH2	TF binding region
ENSG00000170558	Chromatin interaction

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

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

rs_ID	r²[population]
rs11872166	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17495321	0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17495341	0.85[AMR][1000 genomes]
rs17495417	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17536834	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17536898	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17536982	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7232172	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7233210	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7242128	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8084198	0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8084488	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8088570	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8092856	0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8097331	0.92[AFR][1000 genomes];1.00[AMR][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25717600-25753400	Weak transcription	Dnd41	blood
2	chr18:25726000-25745400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr18:25728800-25754200	Weak transcription	HUVEC	blood vessel
4	chr18:25733000-25741600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:25733600-25743400	Weak transcription	Fetal Brain Male	brain
6	chr18:25734000-25743200	Weak transcription	Fetal Brain Female	brain
7	chr18:25734400-25742200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:25734600-25748200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:25734800-25749200	Weak transcription	Fetal Kidney	kidney
10	chr18:25735600-25741800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:25736000-25742200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:25736800-25747400	Enhancers	Liver	Liver
13	chr18:25737200-25743600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr18:25738200-25742800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr18:25738600-25742200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:25738600-25743000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:25738600-25743200	Weak transcription	Brain Hippocampus Middle	brain
18	chr18:25738800-25741400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:25738800-25754200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr18:25739200-25743600	Enhancers	HepG2	liver
21	chr18:25739200-25747200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr18:25739400-25741600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:25739400-25741600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:25739400-25741600	Weak transcription	HSMM	muscle
25	chr18:25739400-25741800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr18:25739400-25741800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr18:25739400-25742000	Weak transcription	A549	lung
28	chr18:25739400-25742200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr18:25739400-25742200	Weak transcription	Brain Angular Gyrus	brain
30	chr18:25739400-25742200	Weak transcription	Fetal Intestine Small	intestine
31	chr18:25739400-25742400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:25739400-25742600	Weak transcription	Brain Anterior Caudate	brain
33	chr18:25739400-25751800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr18:25739600-25741800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr18:25739600-25742200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:25740200-25743000	Enhancers	Right Atrium	heart
37	chr18:25740400-25741800	Weak transcription	Fetal Intestine Large	intestine
38	chr18:25740600-25741800	Weak transcription	Ovary	ovary
39	chr18:25740600-25742400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr18:25740600-25743800	Enhancers	Osteobl	bone
41	chr18:25740800-25741800	Weak transcription	Left Ventricle	heart
42	chr18:25740800-25742200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:25740800-25742400	Weak transcription	Right Ventricle	heart
44	chr18:25740800-25743200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr18:25741000-25741800	Weak transcription	NH-A	brain
46	chr18:25741000-25742200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr18:25741000-25742200	Weak transcription	Brain Germinal Matrix	brain
48	chr18:25741000-25746800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr18:25741200-25741600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr18:25741200-25741600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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