Variant report

Variant	rs2704288
Chromosome Location	chr7:18574041-18574042
allele	A/C
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]
rs1035836	1.00[AMR][1000 genomes]
rs1365892	1.00[AMR][1000 genomes]
rs1405616	1.00[AMR][1000 genomes]
rs1469364	1.00[AMR][1000 genomes]
rs1559952	1.00[AMR][1000 genomes]
rs2114727	1.00[AMR][1000 genomes]
rs213266	1.00[AMR][1000 genomes]
rs213267	1.00[AMR][1000 genomes]
rs213268	1.00[AMR][1000 genomes]
rs213269	1.00[AMR][1000 genomes]
rs213277	1.00[AMR][1000 genomes]
rs35476249	1.00[AMR][1000 genomes]
rs58844869	1.00[AMR][1000 genomes]
rs73309549	1.00[AMR][1000 genomes]
rs801757	1.00[AMR][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	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv887812	chr7:18548719-18622368	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18555200-18580800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:18556200-18575600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:18560600-18584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:18561000-18592600	Weak transcription	NHEK	skin
5	chr7:18561000-18598000	Weak transcription	HMEC	breast
6	chr7:18561400-18575600	Weak transcription	NHDF-Ad	bronchial
7	chr7:18562000-18575600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:18563400-18574400	Weak transcription	Brain Substantia Nigra	brain
9	chr7:18566600-18580200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:18569000-18575600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:18569000-18577400	Weak transcription	Aorta	Aorta
12	chr7:18569600-18574400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:18570000-18574200	Weak transcription	Left Ventricle	heart
14	chr7:18570000-18575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:18570000-18580800	Weak transcription	Psoas Muscle	Psoas
16	chr7:18570200-18574200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:18570200-18574400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:18570200-18577200	Weak transcription	GM12878-XiMat	blood
19	chr7:18570200-18580600	Weak transcription	Brain Angular Gyrus	brain
20	chr7:18571000-18576200	Enhancers	Primary B cells from peripheral blood	blood
21	chr7:18573800-18575800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:18574000-18574200	Strong transcription	Primary B cells from cord blood	blood
23	chr7:18574000-18574600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:18574000-18575800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:18574000-18576000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:18574000-18590400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:18574000-18592600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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