Variant report

Variant	rs73228530
Chromosome Location	chr3:111587393-111587394
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17424938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17425250	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17490701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17491175	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55921603	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55954252	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56092121	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56105878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56343172	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67396907	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6809779	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73226343	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73226349	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73226359	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73226368	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73226399	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228506	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73228508	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228515	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228521	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228535	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228543	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73228545	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228547	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228550	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228569	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7340610	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs937557	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[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	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111579800-111588400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:111579800-111589000	Weak transcription	Pancreas	Pancrea
3	chr3:111580000-111589200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:111581400-111593800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:111582200-111593200	Weak transcription	Lung	lung
6	chr3:111583000-111587600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:111583800-111591200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:111584400-111587600	Weak transcription	NHEK	skin
9	chr3:111584400-111587800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:111584400-111589200	Enhancers	Colon Smooth Muscle	Colon
11	chr3:111584400-111589800	Enhancers	Rectal Smooth Muscle	rectum
12	chr3:111584400-111591000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:111584600-111587600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:111584600-111587800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:111584600-111588000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:111584600-111588400	Weak transcription	Fetal Stomach	stomach
17	chr3:111584600-111588400	Weak transcription	HepG2	liver
18	chr3:111584600-111588400	Weak transcription	NHDF-Ad	bronchial
19	chr3:111584600-111588600	Weak transcription	Fetal Lung	lung
20	chr3:111584600-111588800	Weak transcription	Stomach Mucosa	stomach
21	chr3:111584600-111590800	Weak transcription	Fetal Kidney	kidney
22	chr3:111584600-111591000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:111584600-111593200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:111584600-111603400	Weak transcription	Fetal Intestine Large	intestine
25	chr3:111584800-111591200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:111585200-111587600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:111585200-111588400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:111585200-111588400	Weak transcription	HMEC	breast
29	chr3:111585200-111589000	Weak transcription	NHLF	lung
30	chr3:111585200-111591200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:111585200-111591200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:111585200-111591200	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:111585200-111591200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:111585200-111622000	Weak transcription	HSMMtube	muscle
35	chr3:111585400-111587600	Weak transcription	Liver	Liver
36	chr3:111585400-111588000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:111585400-111588400	Weak transcription	HUVEC	blood vessel
38	chr3:111585400-111591000	Weak transcription	Ovary	ovary
39	chr3:111585400-111592800	Weak transcription	HSMM	muscle
40	chr3:111585400-111593400	Weak transcription	Psoas Muscle	Psoas
41	chr3:111585400-111603400	Weak transcription	Spleen	Spleen
42	chr3:111585400-111609000	Weak transcription	Esophagus	oesophagus
43	chr3:111585600-111587600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:111585600-111587600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:111585600-111587800	Weak transcription	Hela-S3	cervix
46	chr3:111585600-111589000	Enhancers	Adipose Nuclei	Adipose
47	chr3:111585600-111589800	Enhancers	Stomach Smooth Muscle	stomach
48	chr3:111585600-111591000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:111585600-111592400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:111585800-111587600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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