Variant report

Variant	rs394592
Chromosome Location	chr5:80172317-80172318
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	chr5:80168752..80172903-chr5:80174293..80177155,4	K562	blood:
2	chr5:80168752..80172903-chr5:80173933..80177155,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2448492	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs249633	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs249634	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704689	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6872308	0.84[AMR][1000 genomes];0.90[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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80042800-80173400	Weak transcription	Right Ventricle	heart
2	chr5:80091400-80181000	Weak transcription	Small Intestine	intestine
3	chr5:80141200-80178800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:80143000-80175400	Weak transcription	HMEC	breast
5	chr5:80145600-80172800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:80145600-80175600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:80145600-80181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:80145800-80173400	Weak transcription	Colonic Mucosa	Colon
9	chr5:80146000-80173400	Weak transcription	Esophagus	oesophagus
10	chr5:80146400-80173400	Weak transcription	Brain Substantia Nigra	brain
11	chr5:80148600-80175600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:80148800-80173200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:80149200-80176200	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:80149800-80180000	Weak transcription	Psoas Muscle	Psoas
15	chr5:80151200-80173000	Weak transcription	Fetal Brain Male	brain
16	chr5:80151600-80175600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:80152000-80173400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:80152000-80173400	Weak transcription	Pancreas	Pancrea
19	chr5:80152000-80173400	Weak transcription	Thymus	Thymus
20	chr5:80152800-80173200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:80152800-80179000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:80153400-80173400	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:80154000-80173600	Weak transcription	Fetal Brain Female	brain
24	chr5:80157000-80173400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:80157200-80172800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:80157200-80173800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:80157600-80173000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:80157600-80173400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:80157600-80180000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:80162000-80173400	Weak transcription	Brain Anterior Caudate	brain
31	chr5:80163000-80173400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:80163000-80173600	Weak transcription	HepG2	liver
33	chr5:80163000-80175400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:80163000-80181400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:80163200-80173000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:80163200-80175600	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:80163200-80180000	Weak transcription	Fetal Kidney	kidney
38	chr5:80163200-80186600	Weak transcription	HSMMtube	muscle
39	chr5:80163200-80188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:80163400-80173000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:80163400-80173400	Weak transcription	Gastric	stomach
42	chr5:80163400-80173600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:80167000-80174000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr5:80167200-80174200	Strong transcription	Adipose Nuclei	Adipose
45	chr5:80167200-80174200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr5:80167400-80174400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:80167600-80173800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:80167600-80174000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:80167800-80172800	Weak transcription	NHEK	skin
50	chr5:80167800-80173400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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