Variant report

Variant	rs60755652
Chromosome Location	chr4:74471598-74471599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10009599	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10030350	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10213182	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1074084	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1247602	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1247604	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12641279	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12647259	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12648230	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1528919	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28489750	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28825382	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28829089	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28831192	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57165686	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6842636	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs998234	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74440200-74472600	Weak transcription	Gastric	stomach
2	chr4:74456400-74472200	Weak transcription	Colonic Mucosa	Colon
3	chr4:74463800-74474200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:74464200-74476400	Enhancers	Stomach Mucosa	stomach
5	chr4:74464200-74477200	Enhancers	Fetal Intestine Small	intestine
6	chr4:74465000-74475400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:74465400-74483000	Weak transcription	Esophagus	oesophagus
8	chr4:74465600-74472200	Weak transcription	HMEC	breast
9	chr4:74465800-74471800	Weak transcription	Small Intestine	intestine
10	chr4:74465800-74472600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:74465800-74473000	Weak transcription	NHEK	skin
12	chr4:74465800-74476000	Weak transcription	Placenta	Placenta
13	chr4:74466600-74472000	Genic enhancers	Fetal Thymus	thymus
14	chr4:74466800-74474600	Weak transcription	Fetal Kidney	kidney
15	chr4:74467000-74474400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:74469400-74474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:74469800-74473000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:74469800-74473000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:74469800-74474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:74469800-74474400	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:74469800-74474600	Weak transcription	Liver	Liver
22	chr4:74469800-74477200	Enhancers	HepG2	liver
23	chr4:74470000-74472200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:74470000-74472600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:74470000-74473000	Weak transcription	Osteobl	bone
26	chr4:74470000-74474400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:74470000-74475400	Weak transcription	Fetal Lung	lung
28	chr4:74470000-74475400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:74470200-74472000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:74470200-74472000	Weak transcription	Pancreas	Pancrea
31	chr4:74470400-74471800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:74470600-74471800	Enhancers	Thymus	Thymus
33	chr4:74470800-74472000	Enhancers	GM12878-XiMat	blood
34	chr4:74470800-74473600	Enhancers	Primary B cells from peripheral blood	blood
35	chr4:74470800-74473600	Enhancers	Primary T cells from cord blood	blood
36	chr4:74470800-74476000	Enhancers	Fetal Intestine Large	intestine
37	chr4:74471000-74472000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:74471000-74472000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr4:74471000-74472600	Enhancers	Dnd41	blood
40	chr4:74471000-74473200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:74471200-74471600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:74471200-74471600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:74471200-74472000	Enhancers	HSMM	muscle
44	chr4:74471200-74472200	Weak transcription	A549	lung
45	chr4:74471200-74472800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr4:74471200-74473400	Enhancers	Primary B cells from cord blood	blood
47	chr4:74471400-74472800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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