Variant report

Variant	rs801757
Chromosome Location	chr7:18562288-18562289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs213268	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs213269	1.00[AMR][1000 genomes]
rs213277	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2704288	1.00[AMR][1000 genomes]
rs35476249	1.00[AMR][1000 genomes]
rs58844869	1.00[AMR][1000 genomes]
rs73309549	1.00[AMR][1000 genomes]
rs801761	0.90[AFR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18551400-18568400	Weak transcription	Aorta	Aorta
2	chr7:18553400-18569600	Weak transcription	Left Ventricle	heart
3	chr7:18555200-18580800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:18555400-18566200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:18556200-18575600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:18557600-18565400	Weak transcription	Psoas Muscle	Psoas
7	chr7:18559200-18562600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:18560000-18564200	Enhancers	Fetal Heart	heart
9	chr7:18560200-18562800	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:18560400-18574000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:18560600-18562600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:18560600-18568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:18560600-18584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:18560800-18568400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:18561000-18565800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:18561000-18592600	Weak transcription	NHEK	skin
17	chr7:18561000-18598000	Weak transcription	HMEC	breast
18	chr7:18561200-18562600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:18561400-18575600	Weak transcription	NHDF-Ad	bronchial
20	chr7:18561600-18562400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:18561600-18562800	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:18561600-18563400	Enhancers	Brain Substantia Nigra	brain
23	chr7:18561600-18563400	Enhancers	Fetal Brain Male	brain
24	chr7:18561800-18562600	Enhancers	Brain Anterior Caudate	brain
25	chr7:18561800-18562800	Enhancers	Brain Angular Gyrus	brain
26	chr7:18561800-18562800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:18561800-18563200	Enhancers	Brain Hippocampus Middle	brain
28	chr7:18562000-18562800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:18562000-18563000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr7:18562000-18567600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:18562000-18575600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:18562200-18565200	Weak transcription	Primary B cells from cord blood	blood

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