Variant report

Variant	rs28416767
Chromosome Location	chr5:14426412-14426413
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14421497..14424311-chr5:14425692..14427207,2	MCF-7	breast:
2	chr5:14420462..14422289-chr5:14425181..14427687,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11950000	0.89[EUR][1000 genomes]
rs16903509	1.00[EUR][1000 genomes]
rs17428704	0.82[EUR][1000 genomes]
rs28482202	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28548493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57640930	0.89[EUR][1000 genomes]
rs58260094	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60871697	0.80[AFR][1000 genomes]
rs62344984	0.83[EUR][1000 genomes]
rs62345048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345051	0.82[EUR][1000 genomes]
rs62345052	0.82[EUR][1000 genomes]
rs62345053	0.82[EUR][1000 genomes]
rs6883134	0.81[AMR][1000 genomes]
rs730185	0.83[EUR][1000 genomes]
rs73061636	0.89[EUR][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr5:14392400-14426800	Weak transcription	Psoas Muscle	Psoas
4	chr5:14404400-14428600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:14404600-14427600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:14410600-14428000	Weak transcription	Fetal Heart	heart
7	chr5:14411000-14428200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:14412000-14429600	Strong transcription	Fetal Intestine Small	intestine
9	chr5:14412600-14433800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:14413600-14430200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:14413600-14445000	Weak transcription	Small Intestine	intestine
12	chr5:14415000-14429000	Strong transcription	Primary B cells from cord blood	blood
13	chr5:14416000-14430400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr5:14416600-14428400	Weak transcription	Fetal Brain Male	brain
15	chr5:14417000-14428400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:14417200-14431600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:14417400-14428000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr5:14417800-14430800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr5:14418200-14428200	Strong transcription	A549	lung
20	chr5:14418400-14429200	Strong transcription	Colonic Mucosa	Colon
21	chr5:14418600-14431600	Strong transcription	GM12878-XiMat	blood
22	chr5:14419000-14432400	Strong transcription	NHLF	lung
23	chr5:14419600-14426800	Strong transcription	Hela-S3	cervix
24	chr5:14420800-14428600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:14420800-14428600	Strong transcription	NHDF-Ad	bronchial
26	chr5:14421000-14426800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:14421000-14427400	Strong transcription	Fetal Stomach	stomach
28	chr5:14421000-14428600	Weak transcription	Brain Angular Gyrus	brain
29	chr5:14421200-14433400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:14422200-14433600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:14422200-14434800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:14422200-14452200	Weak transcription	Thymus	Thymus
33	chr5:14422400-14426800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:14422400-14427200	Weak transcription	Ovary	ovary
35	chr5:14422400-14427600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:14422400-14428000	Weak transcription	Brain Substantia Nigra	brain
37	chr5:14422400-14429200	Weak transcription	Brain Anterior Caudate	brain
38	chr5:14422400-14429200	Weak transcription	Stomach Mucosa	stomach
39	chr5:14422400-14429600	Strong transcription	NHEK	skin
40	chr5:14422400-14433400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:14422600-14429000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:14422600-14433800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:14422800-14427600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:14423200-14427200	Weak transcription	Esophagus	oesophagus
45	chr5:14423200-14428800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:14423400-14427200	Weak transcription	Gastric	stomach
47	chr5:14423400-14427200	Weak transcription	Pancreas	Pancrea
48	chr5:14423400-14427200	Weak transcription	Right Ventricle	heart
49	chr5:14423400-14427200	Weak transcription	Spleen	Spleen
50	chr5:14423400-14428000	Strong transcription	HSMMtube	muscle

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