Variant report

Variant	rs2601854
Chromosome Location	chr4:86664830-86664831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1020585	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13121496	0.89[AFR][1000 genomes]
rs1985960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2601856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2601858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2601859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2624019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2624020	0.91[AFR][1000 genomes]
rs2624022	1.00[AFR][1000 genomes]
rs343850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343851	0.87[AFR][1000 genomes];1.00[AMR][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	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763373	chr4:86655128-86673695	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86658800-86665600	Weak transcription	Psoas Muscle	Psoas
2	chr4:86659800-86667200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:86659800-86671600	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:86660400-86665200	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:86660400-86666000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:86661600-86667200	Enhancers	A549	lung
7	chr4:86661800-86665400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:86661800-86665600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:86661800-86666400	Enhancers	HSMM	muscle
10	chr4:86662000-86666200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:86662200-86669200	Weak transcription	NH-A	brain
12	chr4:86662600-86666000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:86663200-86667000	Weak transcription	Small Intestine	intestine
14	chr4:86663400-86669200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:86663400-86673200	Weak transcription	Left Ventricle	heart
16	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:86663600-86665000	Weak transcription	HSMMtube	muscle
18	chr4:86663600-86665200	Enhancers	Brain Hippocampus Middle	brain
19	chr4:86663600-86665800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:86663600-86666600	Weak transcription	Right Atrium	heart
21	chr4:86663600-86667000	Weak transcription	Pancreas	Pancrea
22	chr4:86663800-86669200	Weak transcription	Fetal Heart	heart
23	chr4:86664000-86665400	Enhancers	NHLF	lung
24	chr4:86664000-86675600	Weak transcription	Brain Anterior Caudate	brain
25	chr4:86664200-86665000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:86664200-86665000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:86664200-86665000	Enhancers	HMEC	breast
28	chr4:86664200-86665000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr4:86664200-86665000	Flanking Active TSS	NHEK	skin
30	chr4:86664200-86665000	Enhancers	Osteobl	bone
31	chr4:86664400-86665000	Active TSS	GM12878-XiMat	blood
32	chr4:86664400-86673000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:86664600-86665000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr4:86664600-86665200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:86664600-86665400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:86664600-86665800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:86664600-86667400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:86664800-86665000	Enhancers	Primary B cells from cord blood	blood
39	chr4:86664800-86665000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:86664800-86665000	Enhancers	Brain Substantia Nigra	brain
41	chr4:86664800-86665000	Flanking Active TSS	NHDF-Ad	bronchial
42	chr4:86664800-86665200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:86664800-86665600	Enhancers	Adipose Nuclei	Adipose
44	chr4:86664800-86665600	Weak transcription	K562	blood
45	chr4:86664800-86666000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:86664800-86666800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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