Variant report

Variant	rs72656269
Chromosome Location	chr4:86662325-86662326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86657861..86659859-chr4:86661418..86663098,2	K562	blood:
2	chr4:86655653..86657316-chr4:86662237..86664343,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2601857	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs343853	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56030613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56156027	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6821799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6822082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6847909	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72656226	0.85[EUR][1000 genomes]
rs72656227	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72656231	0.90[EUR][1000 genomes]
rs72656232	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72656233	0.90[EUR][1000 genomes]
rs72656237	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72656243	0.90[EUR][1000 genomes]
rs72656255	0.87[EUR][1000 genomes]
rs72656257	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72656262	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72656267	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72656272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656276	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72656289	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72656300	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72658213	0.82[AFR][1000 genomes]
rs7672859	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7691602	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7696560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86647800-86662600	Weak transcription	Left Ventricle	heart
2	chr4:86647800-86662600	Weak transcription	Spleen	Spleen
3	chr4:86648400-86662600	Weak transcription	Pancreas	Pancrea
4	chr4:86650400-86662400	Weak transcription	Adipose Nuclei	Adipose
5	chr4:86655000-86664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:86656600-86664000	Weak transcription	Hela-S3	cervix
7	chr4:86658800-86664600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:86658800-86665600	Weak transcription	Psoas Muscle	Psoas
9	chr4:86659400-86664200	Enhancers	NHDF-Ad	bronchial
10	chr4:86659800-86667200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:86659800-86671600	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:86660400-86662600	Weak transcription	Right Atrium	heart
13	chr4:86660400-86664200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:86660400-86665200	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:86660400-86666000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:86660600-86662600	Weak transcription	Fetal Thymus	thymus
17	chr4:86660600-86663200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:86660600-86664000	Weak transcription	NHEK	skin
19	chr4:86660600-86664200	Weak transcription	HMEC	breast
20	chr4:86660600-86664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:86660800-86664200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:86661200-86663600	Enhancers	NHLF	lung
23	chr4:86661600-86662400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:86661600-86663400	Enhancers	Osteobl	bone
25	chr4:86661600-86664000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:86661600-86667200	Enhancers	A549	lung
27	chr4:86661800-86662800	Enhancers	Brain Hippocampus Middle	brain
28	chr4:86661800-86663000	Enhancers	Primary B cells from cord blood	blood
29	chr4:86661800-86663200	Enhancers	K562	blood
30	chr4:86661800-86663600	Enhancers	HSMMtube	muscle
31	chr4:86661800-86664000	Enhancers	Brain Anterior Caudate	brain
32	chr4:86661800-86664400	Enhancers	Brain Angular Gyrus	brain
33	chr4:86661800-86664600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:86661800-86665400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:86661800-86665600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr4:86661800-86666400	Enhancers	HSMM	muscle
37	chr4:86662000-86662400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:86662000-86662600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:86662000-86666200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:86662200-86662600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:86662200-86663200	Enhancers	Brain Cingulate Gyrus	brain
42	chr4:86662200-86663400	Enhancers	Fetal Muscle Leg	muscle
43	chr4:86662200-86663400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr4:86662200-86663800	Enhancers	Fetal Brain Male	brain
45	chr4:86662200-86664000	Weak transcription	GM12878-XiMat	blood
46	chr4:86662200-86664400	Enhancers	Brain Substantia Nigra	brain
47	chr4:86662200-86664600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr4:86662200-86669200	Weak transcription	NH-A	brain

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