Variant report

Variant	rs8085921
Chromosome Location	chr18:45419421-45419422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45419311..45422107-chr18:45455091..45458226,3	K562	blood:
2	chr18:45417908..45420649-chr18:45455879..45458508,2	MCF-7	breast:
3	chr18:45418408..45421251-chr18:45456874..45460138,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11872548	1.00[AMR][1000 genomes]
rs11875051	1.00[AMR][1000 genomes]
rs11875783	1.00[AMR][1000 genomes]
rs11877848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12327508	1.00[EUR][1000 genomes]
rs12968971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12969668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16957829	1.00[EUR][1000 genomes]
rs16957841	1.00[EUR][1000 genomes]
rs28455633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28465195	1.00[AMR][1000 genomes]
rs28622478	1.00[AMR][1000 genomes]
rs28683114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28769310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61238329	1.00[AMR][1000 genomes]
rs6507788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7228619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7233149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235743	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7240327	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73953631	1.00[AMR][1000 genomes]
rs73953632	1.00[AMR][1000 genomes]
rs73953633	1.00[AMR][1000 genomes]
rs8083042	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084338	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8087218	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8092786	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs8096366	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8098860	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9945033	1.00[EUR][1000 genomes]
rs9947095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9947563	1.00[EUR][1000 genomes]
rs9947712	1.00[AMR][1000 genomes]
rs9951883	1.00[AMR][1000 genomes]
rs9952115	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952878	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952992	1.00[AMR][1000 genomes]
rs9957678	1.00[AMR][1000 genomes]
rs9958863	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9960371	1.00[EUR][1000 genomes]
rs9962367	1.00[EUR][1000 genomes]
rs9965552	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9965717	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	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
2	chr18:45384200-45421200	Weak transcription	Gastric	stomach
3	chr18:45384200-45423000	Weak transcription	Lung	lung
4	chr18:45384400-45419600	Weak transcription	K562	blood
5	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
6	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
7	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
9	chr18:45390600-45419600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:45395400-45420800	Weak transcription	Fetal Brain Female	brain
11	chr18:45397000-45430600	Weak transcription	Brain Angular Gyrus	brain
12	chr18:45398200-45420400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr18:45399200-45420600	Weak transcription	Pancreas	Pancrea
14	chr18:45400400-45432200	Weak transcription	Ovary	ovary
15	chr18:45400600-45424600	Weak transcription	Stomach Mucosa	stomach
16	chr18:45401200-45426000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:45401400-45420600	Weak transcription	Brain Anterior Caudate	brain
18	chr18:45401400-45424600	Weak transcription	Brain Hippocampus Middle	brain
19	chr18:45401600-45421400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr18:45401600-45423400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:45403800-45422200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr18:45405200-45423400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr18:45407400-45420600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:45407600-45421000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr18:45407800-45420000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr18:45408800-45420400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:45408800-45420400	Weak transcription	Left Ventricle	heart
28	chr18:45408800-45423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:45409000-45420400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr18:45409000-45420400	Weak transcription	Small Intestine	intestine
31	chr18:45409000-45420600	Weak transcription	Fetal Stomach	stomach
32	chr18:45409200-45426400	Weak transcription	Fetal Kidney	kidney
33	chr18:45409600-45421200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr18:45410600-45421200	Weak transcription	Psoas Muscle	Psoas
35	chr18:45410600-45421200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr18:45410600-45425000	Weak transcription	HSMMtube	muscle
37	chr18:45410800-45419600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:45410800-45420600	Weak transcription	Right Atrium	heart
39	chr18:45410800-45420800	Weak transcription	HSMM	muscle
40	chr18:45410800-45422800	Weak transcription	NHLF	lung
41	chr18:45410800-45424400	Weak transcription	Colon Smooth Muscle	Colon
42	chr18:45410800-45424400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr18:45410800-45424600	Weak transcription	Brain Substantia Nigra	brain
44	chr18:45410800-45424800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr18:45410800-45425800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr18:45410800-45428000	Weak transcription	Aorta	Aorta
47	chr18:45411000-45420200	Weak transcription	Osteobl	bone
48	chr18:45411000-45420400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr18:45411000-45421000	Weak transcription	NHEK	skin
50	chr18:45411200-45421200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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