Variant report

Variant	rs28769310
Chromosome Location	chr18:45407431-45407432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:

Extended variants
information (count: 51 )
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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12969668	1.00[AFR][1000 genomes];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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61238329	1.00[AMR][1000 genomes]
rs6507788	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7228619	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7233149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7240327	0.81[AFR][1000 genomes];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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8087218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8092786	1.00[EUR][1000 genomes]
rs8096366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8098860	0.83[AFR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952878	1.00[AFR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9960371	1.00[EUR][1000 genomes]
rs9962367	1.00[EUR][1000 genomes]
rs9965552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9965717	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057028	chr18:45384301-45410482	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1062089	chr18:45387616-45407754	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1064124	chr18:45387616-45410760	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1065234	chr18:45389554-45407966	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1057072	chr18:45395377-45410041	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1064892	chr18:45397130-45407820	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv960228	chr18:45401994-45411054	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
3	chr18:45384200-45421200	Weak transcription	Gastric	stomach
4	chr18:45384200-45423000	Weak transcription	Lung	lung
5	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
6	chr18:45384400-45419600	Weak transcription	K562	blood
7	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
8	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
9	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
10	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
12	chr18:45387000-45408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:45387000-45408400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:45387600-45408200	Weak transcription	Fetal Stomach	stomach
15	chr18:45389000-45410200	Weak transcription	Psoas Muscle	Psoas
16	chr18:45390000-45413600	Weak transcription	Fetal Heart	heart
17	chr18:45390400-45408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr18:45390400-45408400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:45390400-45410000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr18:45390600-45410400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:45390600-45419600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr18:45391000-45418400	Weak transcription	HUVEC	blood vessel
23	chr18:45391200-45416400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr18:45394600-45414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:45394800-45407800	Weak transcription	Osteobl	bone
26	chr18:45395400-45408000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr18:45395400-45420800	Weak transcription	Fetal Brain Female	brain
28	chr18:45395800-45407600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:45396000-45418800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr18:45396200-45413400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr18:45397000-45430600	Weak transcription	Brain Angular Gyrus	brain
32	chr18:45397200-45408000	Weak transcription	HMEC	breast
33	chr18:45398000-45408000	Weak transcription	NHEK	skin
34	chr18:45398000-45408200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:45398000-45409200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr18:45398200-45420400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr18:45398400-45414400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr18:45398600-45410200	Weak transcription	Colon Smooth Muscle	Colon
39	chr18:45398600-45410200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:45399200-45408200	Weak transcription	Left Ventricle	heart
41	chr18:45399200-45413400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr18:45399200-45420600	Weak transcription	Pancreas	Pancrea
43	chr18:45399400-45408400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr18:45399600-45408200	Weak transcription	Thymus	Thymus
45	chr18:45399600-45411600	Weak transcription	Fetal Intestine Small	intestine
46	chr18:45399600-45413600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr18:45399600-45419000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr18:45400400-45410400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr18:45400400-45432200	Weak transcription	Ovary	ovary
50	chr18:45400600-45407600	Weak transcription	Muscle Satellite Cultured Cells	--

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