Variant report

Variant	rs7244253
Chromosome Location	chr18:25596581-25596582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11564302	1.00[AMR][1000 genomes]
rs11564303	0.83[ASW][hapmap]
rs11564317	0.83[ASW][hapmap];1.00[AMR][1000 genomes]
rs11564402	1.00[AMR][1000 genomes]
rs11564407	0.83[ASW][hapmap];1.00[AMR][1000 genomes]
rs17493199	1.00[AMR][1000 genomes]
rs17494220	1.00[AMR][1000 genomes]
rs17522375	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs17522534	0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17535524	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs8084090	1.00[AMR][1000 genomes]
rs8092981	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1066192	chr18:25454413-25606736	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv543669	chr18:25454413-25606736	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25583600-25599000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:25583800-25621400	Weak transcription	Right Ventricle	heart
3	chr18:25589800-25611000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:25592000-25599000	Weak transcription	Liver	Liver
5	chr18:25592400-25611000	Weak transcription	Brain Germinal Matrix	brain
6	chr18:25593600-25612000	Weak transcription	HUVEC	blood vessel
7	chr18:25593800-25612600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:25594200-25596800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:25594400-25597800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:25594400-25599400	Weak transcription	A549	lung
11	chr18:25594600-25599000	Weak transcription	HSMM	muscle
12	chr18:25595200-25597000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:25595200-25599000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:25595200-25602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr18:25595200-25603800	Weak transcription	NH-A	brain
16	chr18:25595200-25615000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:25595800-25598600	Weak transcription	Osteobl	bone
18	chr18:25596200-25599000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:25596200-25599000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr18:25596400-25599400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links