Variant report

Variant	rs16958615
Chromosome Location	chr18:45428467-45428468
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45422820..45426374-chr18:45428189..45430649,3	K562	blood:
2	chr18:45428185..45429886-chr18:45431869..45434765,2	K562	blood:
3	chr18:45420997..45425237-chr18:45427977..45430649,5	K562	blood:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1051066	1.00[EUR][1000 genomes]
rs16958447	1.00[EUR][1000 genomes]
rs16958453	1.00[EUR][1000 genomes]
rs16958460	1.00[EUR][1000 genomes]
rs16958463	1.00[EUR][1000 genomes]
rs16958475	1.00[EUR][1000 genomes]
rs16958497	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958498	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958499	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958520	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958543	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958545	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958551	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958554	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958557	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958568	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958574	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958577	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958585	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958599	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958635	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958643	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs17815568	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs1970666	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7232994	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72914353	0.91[AFR][1000 genomes]
rs8084846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948599	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45397000-45430600	Weak transcription	Brain Angular Gyrus	brain
2	chr18:45400400-45432200	Weak transcription	Ovary	ovary
3	chr18:45420800-45433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr18:45420800-45439600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr18:45421000-45430600	Weak transcription	Right Ventricle	heart
6	chr18:45421200-45436800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:45421800-45430400	Weak transcription	Esophagus	oesophagus
8	chr18:45421800-45430600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:45421800-45437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:45422200-45429200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr18:45422200-45430600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:45423000-45430600	Weak transcription	NHLF	lung
13	chr18:45423000-45432800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:45423200-45429000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:45423200-45429200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:45423200-45429200	Weak transcription	Right Atrium	heart
17	chr18:45423200-45429200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:45423200-45430000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:45423200-45430600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:45423200-45430600	Weak transcription	Left Ventricle	heart
21	chr18:45423200-45430600	Weak transcription	Lung	lung
22	chr18:45423200-45430600	Weak transcription	Pancreas	Pancrea
23	chr18:45423200-45430600	Weak transcription	HSMM	muscle
24	chr18:45423200-45432800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr18:45423200-45438200	Weak transcription	Gastric	stomach
26	chr18:45423200-45451400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr18:45424600-45431600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr18:45424800-45431000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:45424800-45433000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:45425000-45430600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr18:45425400-45432600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr18:45425600-45430000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr18:45425800-45432800	Weak transcription	HMEC	breast
34	chr18:45426000-45433000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr18:45426200-45429200	Weak transcription	Brain Substantia Nigra	brain
36	chr18:45426200-45429200	Weak transcription	Fetal Lung	lung
37	chr18:45426200-45429800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr18:45426200-45431000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr18:45426200-45433000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:45426200-45438200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr18:45426400-45428600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr18:45426400-45428600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr18:45426400-45429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr18:45426400-45429200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr18:45426400-45429800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr18:45426400-45430600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr18:45426400-45430600	Weak transcription	Brain Hippocampus Middle	brain
48	chr18:45426400-45431600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr18:45426400-45431600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr18:45426400-45432800	Weak transcription	HepG2	liver

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