Variant report

Variant	rs7716360
Chromosome Location	chr5:142764741-142764742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10041520	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs258747	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs258763	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33383	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33388	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41423247	0.81[ASN][1000 genomes]
rs4634384	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6191	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6877893	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852976	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852980	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs852983	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs853180	0.84[ASN][1000 genomes]
rs853183	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][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	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142741600-142771600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:142756600-142766400	Weak transcription	Pancreas	Pancrea
3	chr5:142757600-142768400	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:142760400-142764800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:142761200-142767200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:142761200-142778600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:142761400-142766600	ZNF genes & repeats	Fetal Muscle Leg	muscle
8	chr5:142761400-142769600	ZNF genes & repeats	GM12878-XiMat	blood
9	chr5:142761800-142766800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:142762000-142766600	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr5:142762200-142766000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:142762200-142766600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr5:142762200-142767400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:142762400-142766600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr5:142762400-142767800	ZNF genes & repeats	A549	lung
16	chr5:142762800-142764800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr5:142763000-142764800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr5:142763200-142764800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:142763200-142765400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:142763400-142766400	Strong transcription	Osteobl	bone
21	chr5:142763600-142764800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr5:142763600-142764800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr5:142763600-142765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:142763600-142765200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
25	chr5:142763600-142765600	ZNF genes & repeats	Fetal Thymus	thymus
26	chr5:142763600-142765800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr5:142763600-142765800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr5:142763600-142765800	ZNF genes & repeats	HSMM	muscle
29	chr5:142763600-142766200	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr5:142763600-142766400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:142763600-142766800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr5:142763800-142765400	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr5:142763800-142765800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
34	chr5:142763800-142766000	ZNF genes & repeats	HMEC	breast
35	chr5:142764000-142764800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:142764000-142765400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:142764000-142765400	Weak transcription	NHDF-Ad	bronchial
38	chr5:142764000-142765800	ZNF genes & repeats	Brain Anterior Caudate	brain
39	chr5:142764000-142766600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr5:142764200-142764800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:142764200-142764800	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr5:142764200-142764800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:142764200-142764800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:142764200-142764800	ZNF genes & repeats	Aorta	Aorta
45	chr5:142764200-142764800	Enhancers	Psoas Muscle	Psoas
46	chr5:142764200-142764800	ZNF genes & repeats	Spleen	Spleen
47	chr5:142764200-142764800	ZNF genes & repeats	NHEK	skin
48	chr5:142764200-142764800	ZNF genes & repeats	NHLF	lung
49	chr5:142764200-142765000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:142764200-142765000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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