Variant report

Variant	rs7732320
Chromosome Location	chr5:80719125-80719126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10044074	1.00[CHB][hapmap]
rs10064511	1.00[CHB][hapmap]
rs10474030	1.00[CHB][hapmap]
rs11738172	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs11949541	1.00[CHB][hapmap]
rs12187089	0.92[GIH][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs12188441	0.84[EUR][1000 genomes]
rs16898954	1.00[CHB][hapmap]
rs17296325	0.89[EUR][1000 genomes]
rs3805725	1.00[CHB][hapmap]

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	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	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Glioblastoma	22472174	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7732320	EDIL3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80693400-80721600	Weak transcription	Fetal Brain Male	brain
2	chr5:80694800-80722400	Weak transcription	Aorta	Aorta
3	chr5:80697200-80739600	Weak transcription	Left Ventricle	heart
4	chr5:80701800-80722000	Weak transcription	Ovary	ovary
5	chr5:80702200-80733600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:80704400-80721600	Weak transcription	Fetal Stomach	stomach
8	chr5:80704400-80747600	Weak transcription	Placenta	Placenta
9	chr5:80704600-80721600	Weak transcription	Fetal Kidney	kidney
10	chr5:80705600-80722000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:80707400-80748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:80708000-80722400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:80708000-80729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:80708200-80721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:80709200-80755200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:80710400-80721600	Strong transcription	Fetal Thymus	thymus
17	chr5:80710600-80721600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:80712200-80721600	Strong transcription	Dnd41	blood
19	chr5:80712600-80721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:80712600-80722200	Weak transcription	Psoas Muscle	Psoas
21	chr5:80713600-80728200	Weak transcription	Lung	lung
22	chr5:80713600-80769200	Weak transcription	Esophagus	oesophagus
23	chr5:80713800-80719400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:80714200-80721600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:80714400-80719400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:80714800-80721200	Weak transcription	Fetal Heart	heart
27	chr5:80715600-80722000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:80715800-80721400	Enhancers	Hela-S3	cervix
29	chr5:80716000-80722600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:80716200-80719200	Enhancers	NHDF-Ad	bronchial
31	chr5:80716200-80721600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:80716200-80721800	Weak transcription	Fetal Brain Female	brain
33	chr5:80716200-80767800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:80716400-80719200	Enhancers	A549	lung
35	chr5:80716400-80721600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:80716400-80727400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:80716600-80721600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:80716600-80730000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:80716800-80720600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:80716800-80721600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:80716800-80721600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:80716800-80721600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:80716800-80721600	Weak transcription	Brain Germinal Matrix	brain
44	chr5:80716800-80721600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:80716800-80721600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:80716800-80721800	Weak transcription	Brain Angular Gyrus	brain
47	chr5:80716800-80768400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:80717000-80721400	Weak transcription	NHEK	skin
49	chr5:80717000-80721600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:80717000-80721600	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links