Variant report

Variant	rs6449534
Chromosome Location	chr5:60729841-60729842
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17422055	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17422192	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58234049	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59375059	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60859415	0.83[AMR][1000 genomes]
rs61325511	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	esv3347393	chr5:60729095-60731093	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60711000-60735800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:60713400-60732800	Weak transcription	Small Intestine	intestine
3	chr5:60719800-60745200	Weak transcription	NHDF-Ad	bronchial
4	chr5:60720000-60733800	Weak transcription	NHLF	lung
5	chr5:60720000-60736400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:60720000-60737400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:60720400-60734000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:60720600-60743200	Weak transcription	HSMMtube	muscle
9	chr5:60721000-60733000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:60725600-60732600	Weak transcription	Fetal Heart	heart
11	chr5:60725600-60737400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:60725800-60732800	Weak transcription	Esophagus	oesophagus
13	chr5:60725800-60732800	Weak transcription	Pancreas	Pancrea
14	chr5:60726000-60730800	Weak transcription	Fetal Brain Female	brain
15	chr5:60726000-60732800	Weak transcription	Left Ventricle	heart
16	chr5:60726000-60732800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:60726000-60733800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:60726000-60736600	Weak transcription	Right Atrium	heart
19	chr5:60726800-60745600	Weak transcription	Stomach Mucosa	stomach
20	chr5:60727000-60732000	Weak transcription	Liver	Liver
21	chr5:60728400-60732400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:60728400-60732600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:60728400-60732600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:60728400-60733400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:60728400-60733600	Weak transcription	Fetal Brain Male	brain
26	chr5:60728400-60734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:60728400-60734000	Weak transcription	HSMM	muscle
28	chr5:60728400-60737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:60728400-60745400	Weak transcription	Ovary	ovary
30	chr5:60728600-60730200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:60728600-60730400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:60728600-60730400	Weak transcription	Brain Anterior Caudate	brain
33	chr5:60728600-60730600	Weak transcription	A549	lung
34	chr5:60728600-60731200	Weak transcription	Fetal Kidney	kidney
35	chr5:60728600-60732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:60728600-60732800	Weak transcription	HMEC	breast
37	chr5:60728600-60732800	Weak transcription	NHEK	skin
38	chr5:60728600-60734000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:60728600-60734000	Weak transcription	Brain Germinal Matrix	brain
40	chr5:60728600-60737400	Weak transcription	Fetal Lung	lung
41	chr5:60728600-60737400	Weak transcription	Fetal Stomach	stomach
42	chr5:60728800-60732800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:60728800-60733800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:60728800-60737600	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:60729000-60730400	Weak transcription	Brain Angular Gyrus	brain
46	chr5:60729000-60731200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:60729000-60732200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:60729000-60732600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:60729000-60737000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:60729400-60730400	Weak transcription	Brain Substantia Nigra	brain

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