Variant report

Variant	rs28612763
Chromosome Location	chr4:186604188-186604189
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10000730	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10017388	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022965	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941643	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478140	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28548754	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28597952	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609198	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28640934	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4862562	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56168348	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56235904	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61267136	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66688377	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67910991	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700110	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700115	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700117	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994953	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186583400-186607200	Weak transcription	Fetal Intestine Large	intestine
2	chr4:186583800-186604800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:186587200-186610600	Weak transcription	Lung	lung
4	chr4:186595200-186606000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:186596800-186606000	Weak transcription	Right Ventricle	heart
6	chr4:186596800-186610600	Weak transcription	Gastric	stomach
7	chr4:186597200-186626000	Weak transcription	HepG2	liver
8	chr4:186598400-186613200	Weak transcription	Fetal Stomach	stomach
9	chr4:186598600-186605000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:186598600-186610400	Weak transcription	Aorta	Aorta
11	chr4:186598600-186610600	Weak transcription	Pancreas	Pancrea
12	chr4:186598600-186615800	Weak transcription	Fetal Intestine Small	intestine
13	chr4:186599600-186621200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:186599800-186605200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:186600400-186605800	Enhancers	Fetal Heart	heart
16	chr4:186601000-186615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:186602400-186614800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:186602600-186605200	Enhancers	Left Ventricle	heart
19	chr4:186602800-186604400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:186603000-186604200	Weak transcription	Liver	Liver
21	chr4:186603000-186606800	Weak transcription	Esophagus	oesophagus
22	chr4:186603400-186604200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:186603600-186604400	Weak transcription	HSMMtube	muscle
24	chr4:186603600-186605800	Weak transcription	HSMM	muscle
25	chr4:186603600-186605800	Weak transcription	NHDF-Ad	bronchial
26	chr4:186603600-186606400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:186603800-186614800	Weak transcription	NH-A	brain
28	chr4:186604000-186604800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:186604000-186606000	Enhancers	Right Atrium	heart
30	chr4:186604000-186606800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:186604000-186606800	Weak transcription	Osteobl	bone
32	chr4:186604000-186613400	Weak transcription	HUVEC	blood vessel

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