Variant report

Variant	rs73228550
Chromosome Location	chr3:111605354-111605355
allele	A/G
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	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17425250	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17490701	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17491175	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921603	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55954252	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56092121	0.96[EUR][1000 genomes]
rs56105878	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56343172	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67396907	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6809779	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73226343	0.94[EUR][1000 genomes]
rs73226349	0.94[EUR][1000 genomes]
rs73226359	0.96[EUR][1000 genomes]
rs73226368	0.96[EUR][1000 genomes]
rs73226399	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73228506	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73228508	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228510	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228514	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228515	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228518	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228521	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228530	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228535	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228543	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228545	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340610	0.96[EUR][1000 genomes]
rs937557	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111585200-111622000	Weak transcription	HSMMtube	muscle
2	chr3:111585400-111609000	Weak transcription	Esophagus	oesophagus
3	chr3:111591600-111610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:111591600-111633200	Weak transcription	Fetal Kidney	kidney
5	chr3:111593600-111608800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:111598400-111612600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:111601200-111612400	Strong transcription	NHEK	skin
8	chr3:111601600-111605600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:111601600-111620400	Weak transcription	Fetal Lung	lung
10	chr3:111601800-111620600	Weak transcription	NHDF-Ad	bronchial
11	chr3:111602000-111605400	Strong transcription	HUVEC	blood vessel
12	chr3:111602000-111612400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:111602400-111606200	Strong transcription	Hela-S3	cervix
14	chr3:111602600-111605600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:111602600-111611000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:111602600-111611400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:111602600-111611400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:111602800-111605600	Strong transcription	Liver	Liver
19	chr3:111602800-111607200	Weak transcription	Primary B cells from cord blood	blood
20	chr3:111603000-111606400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:111603000-111607000	Strong transcription	Osteobl	bone
22	chr3:111603200-111605400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr3:111603200-111607800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:111603200-111610200	Strong transcription	HMEC	breast
25	chr3:111603400-111605800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:111603400-111609400	Strong transcription	HSMM	muscle
27	chr3:111603400-111610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:111603600-111605800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:111603600-111607600	Strong transcription	NH-A	brain
30	chr3:111604000-111632200	Weak transcription	Gastric	stomach
31	chr3:111604200-111606400	Strong transcription	Placenta	Placenta
32	chr3:111604200-111609800	Weak transcription	Lung	lung
33	chr3:111604200-111611800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:111604200-111617400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:111604200-111617600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr3:111604400-111606000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr3:111604400-111606000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr3:111604400-111606200	Weak transcription	HepG2	liver
39	chr3:111604400-111607200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:111604400-111607200	Weak transcription	A549	lung
41	chr3:111604400-111608200	Weak transcription	Fetal Stomach	stomach
42	chr3:111604400-111609400	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:111604400-111609800	Weak transcription	Aorta	Aorta
44	chr3:111604400-111609800	Weak transcription	Left Ventricle	heart
45	chr3:111604400-111609800	Weak transcription	Right Ventricle	heart
46	chr3:111604400-111610000	Weak transcription	Pancreas	Pancrea
47	chr3:111604400-111610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:111604400-111611800	Weak transcription	Spleen	Spleen
49	chr3:111604400-111614600	Weak transcription	Fetal Intestine Small	intestine
50	chr3:111604400-111614800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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