Variant report

Variant	rs1592878
Chromosome Location	chr5:80124801-80124802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1008119	0.86[ASN][1000 genomes]
rs10942930	0.81[ASN][1000 genomes]
rs12521082	0.82[ASN][1000 genomes]
rs1363365	0.82[ASN][1000 genomes]
rs16878204	0.88[ASN][1000 genomes]
rs2112416	0.82[ASN][1000 genomes]
rs33003	0.82[ASN][1000 genomes]
rs3797897	0.81[ASN][1000 genomes]
rs4703819	0.88[ASN][1000 genomes]
rs55928960	0.88[ASN][1000 genomes]
rs57067128	0.86[ASN][1000 genomes]
rs58508689	0.81[ASN][1000 genomes]
rs6151892	0.89[ASN][1000 genomes]
rs6151901	0.81[ASN][1000 genomes]
rs6151906	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151909	0.88[ASN][1000 genomes]
rs72765590	0.89[ASN][1000 genomes]
rs73137557	0.88[ASN][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80042800-80173400	Weak transcription	Right Ventricle	heart
2	chr5:80085200-80127600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr5:80087400-80132800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:80087800-80167400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:80091200-80144400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:80091400-80181000	Weak transcription	Small Intestine	intestine
7	chr5:80091800-80125200	Weak transcription	Osteobl	bone
8	chr5:80103800-80144600	Weak transcription	Gastric	stomach
9	chr5:80110600-80145200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:80111400-80131800	Weak transcription	Hela-S3	cervix
11	chr5:80113200-80125200	Weak transcription	Fetal Kidney	kidney
12	chr5:80113200-80128200	Weak transcription	HSMM	muscle
13	chr5:80119000-80125800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:80119000-80145000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:80120800-80143800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:80121200-80130400	Weak transcription	Stomach Mucosa	stomach
17	chr5:80122800-80125200	ZNF genes & repeats	Dnd41	blood
18	chr5:80123400-80125600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr5:80123600-80125200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
20	chr5:80123600-80125200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr5:80123800-80125000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
22	chr5:80123800-80125200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
23	chr5:80123800-80125200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
24	chr5:80123800-80125200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:80123800-80125200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:80123800-80125400	ZNF genes & repeats	Liver	Liver
27	chr5:80123800-80125600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr5:80123800-80125800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr5:80124000-80125000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:80124000-80125000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
31	chr5:80124000-80125200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr5:80124000-80125200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:80124000-80125200	ZNF genes & repeats	GM12878-XiMat	blood
34	chr5:80124000-80125400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
35	chr5:80124000-80125400	ZNF genes & repeats	HepG2	liver
36	chr5:80124200-80125000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:80124200-80125000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:80124200-80125000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
39	chr5:80124200-80125000	ZNF genes & repeats	Ovary	ovary
40	chr5:80124200-80125000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
41	chr5:80124200-80125200	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr5:80124200-80125200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr5:80124200-80125200	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr5:80124200-80125400	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr5:80124200-80125800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:80124200-80125800	ZNF genes & repeats	Fetal Lung	lung
47	chr5:80124400-80125000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:80124400-80125000	ZNF genes & repeats	Left Ventricle	heart
49	chr5:80124400-80125000	ZNF genes & repeats	Pancreas	Pancrea
50	chr5:80124400-80125200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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