Variant report

Variant	rs9758483
Chromosome Location	chr3:43550230-43550231
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43545391..43549472-chr3:43550069..43554434,5	K562	blood:
2	chr3:43548630..43550248-chr3:43551159..43553858,2	MCF-7	breast:
3	chr3:43545909..43549101-chr3:43550069..43553920,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1026888	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10510737	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17075754	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1842805	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2372435	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6441778	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6772068	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6795944	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6802567	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72865005	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72865013	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72865025	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72865027	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72865029	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7636753	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7651078	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs922642	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9758468	1.00[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	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43504800-43553400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:43526000-43560800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:43527200-43560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:43533000-43553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:43539200-43575000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:43539600-43558800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:43539800-43553800	Weak transcription	HSMMtube	muscle
8	chr3:43540000-43554200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:43540000-43554400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:43540000-43556600	Weak transcription	Fetal Intestine Small	intestine
11	chr3:43540000-43582000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:43540200-43550800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:43540200-43554000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:43540200-43559000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:43540200-43564600	Weak transcription	NHEK	skin
16	chr3:43540200-43602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:43540600-43560800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:43540800-43554200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:43540800-43559200	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:43541600-43559000	Weak transcription	Adipose Nuclei	Adipose
21	chr3:43541800-43558600	Weak transcription	Aorta	Aorta
22	chr3:43542000-43559000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:43542800-43588800	Weak transcription	Left Ventricle	heart
24	chr3:43544000-43617600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:43544200-43554000	Weak transcription	HSMM	muscle
26	chr3:43544200-43558200	Weak transcription	Lung	lung
27	chr3:43544200-43558600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:43544400-43560200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:43545200-43559200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:43545200-43560200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:43546400-43552800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:43546400-43561000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:43547200-43553800	Weak transcription	NHLF	lung
34	chr3:43547200-43554000	Weak transcription	Osteobl	bone
35	chr3:43547200-43567200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:43547400-43560800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:43547600-43595800	Weak transcription	Fetal Stomach	stomach
38	chr3:43548200-43554200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr3:43548400-43559000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:43548400-43559000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:43548400-43559200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr3:43549000-43556200	Weak transcription	Esophagus	oesophagus
43	chr3:43549000-43561200	Weak transcription	Right Ventricle	heart
44	chr3:43549200-43554400	Weak transcription	K562	blood
45	chr3:43549200-43557400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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