Variant report

Variant	rs7712599
Chromosome Location	chr5:107005016-107005017
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	chr5:107000146..107001878-chr5:107002234..107005030,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FER-13	chr5:107004862-107006391	NONHSAT103114

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10035128	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10035579	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10045106	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10052756	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10076670	1.00[AMR][1000 genomes]
rs10077954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078962	1.00[AMR][1000 genomes]
rs28786975	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28820603	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28833173	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60262497	1.00[AMR][1000 genomes]
rs6878320	1.00[AMR][1000 genomes]
rs6892545	1.00[AMR][1000 genomes]
rs6896050	1.00[AMR][1000 genomes]
rs7700859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107000000-107006800	Active TSS	GM12878-XiMat	blood
2	chr5:107002200-107005400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:107002400-107009600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:107002400-107009800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:107003000-107009600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:107003000-107009600	Active TSS	A549	lung
7	chr5:107003200-107006400	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr5:107003200-107009600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:107003800-107005400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr5:107003800-107006000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:107003800-107006200	Active TSS	Right Ventricle	heart
12	chr5:107003800-107009600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:107003800-107009600	Active TSS	NHDF-Ad	bronchial
14	chr5:107004000-107005200	Active TSS	Fetal Stomach	stomach
15	chr5:107004000-107005200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr5:107004000-107005800	Active TSS	Brain Cingulate Gyrus	brain
17	chr5:107004000-107008600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:107004000-107008600	Active TSS	HSMM	muscle
19	chr5:107004000-107009000	Active TSS	Left Ventricle	heart
20	chr5:107004000-107009400	Active TSS	Placenta Amnion	Placenta Amnion
21	chr5:107004000-107009600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:107004000-107009600	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr5:107004000-107009600	Active TSS	Aorta	Aorta
24	chr5:107004000-107009600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:107004000-107009600	Active TSS	Right Atrium	heart
26	chr5:107004200-107005200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr5:107004200-107005200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:107004200-107005200	Flanking Active TSS	HUVEC	blood vessel
29	chr5:107004200-107005800	Active TSS	Fetal Heart	heart
30	chr5:107004200-107006600	Bivalent/Poised TSS	Osteobl	bone
31	chr5:107004200-107009400	Active TSS	NHLF	lung
32	chr5:107004200-107009600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:107004200-107009600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr5:107004200-107009600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:107004400-107005200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:107004400-107005600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:107004400-107005600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:107004400-107006000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:107004400-107006000	Active TSS	Colon Smooth Muscle	Colon
40	chr5:107004400-107006200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr5:107004400-107007600	Active TSS	NH-A	brain
42	chr5:107004400-107009600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr5:107004400-107009600	Active TSS	Brain Anterior Caudate	brain
44	chr5:107004400-107009600	Active TSS	Rectal Smooth Muscle	rectum
45	chr5:107004600-107005200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:107004600-107005200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:107004600-107005200	Enhancers	Liver	Liver
48	chr5:107004600-107005200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
49	chr5:107004600-107005200	Enhancers	Dnd41	blood
50	chr5:107004600-107005400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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