Variant report

Variant	rs17296479
Chromosome Location	chr5:80706976-80706977
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80700874..80703260-chr5:80706803..80709278,2	K562	blood:
2	chr5:80706922..80709797-chr5:80713834..80717319,3	K562	blood:
3	chr5:80705493..80708422-chr5:80713834..80715686,2	K562	blood:
4	chr5:80705376..80707322-chr5:80721977..80724375,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11738172	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11740623	1.00[CHB][hapmap]
rs11745197	1.00[CHB][hapmap]
rs11749621	1.00[CHB][hapmap]
rs11950300	1.00[CHB][hapmap]
rs12187089	1.00[ASW][hapmap];0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs12188441	0.80[EUR][1000 genomes]
rs12188470	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188878	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296325	0.85[EUR][1000 genomes]
rs7705672	0.89[EUR][1000 genomes]
rs7717804	1.00[CHB][hapmap]
rs7732320	0.84[CEU][hapmap]

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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17296479	RRAD	trans	brain	seeQTL
rs17296479	ABHD6	trans	lymphoblastoid	seeQTL
rs17296479	EDIL3	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80693400-80721600	Weak transcription	Fetal Brain Male	brain
2	chr5:80693800-80714600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:80694800-80707800	Weak transcription	Dnd41	blood
4	chr5:80694800-80722400	Weak transcription	Aorta	Aorta
5	chr5:80695400-80716000	Weak transcription	Brain Angular Gyrus	brain
6	chr5:80697200-80739600	Weak transcription	Left Ventricle	heart
7	chr5:80697400-80716000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:80698200-80716000	Weak transcription	Thymus	Thymus
9	chr5:80700200-80715000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr5:80700400-80712400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:80701600-80715800	Weak transcription	Brain Anterior Caudate	brain
12	chr5:80701600-80715800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:80701800-80722000	Weak transcription	Ovary	ovary
14	chr5:80702000-80716000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:80702200-80733600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:80702400-80715800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:80703200-80714000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:80703200-80714000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:80703400-80716000	Weak transcription	Fetal Brain Female	brain
21	chr5:80704000-80716800	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:80704200-80708400	Enhancers	Liver	Liver
23	chr5:80704400-80721600	Weak transcription	Fetal Stomach	stomach
24	chr5:80704400-80747600	Weak transcription	Placenta	Placenta
25	chr5:80704600-80708400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:80704600-80721600	Weak transcription	Fetal Kidney	kidney
27	chr5:80704800-80712400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:80705200-80712400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:80705200-80713000	Weak transcription	Adipose Nuclei	Adipose
30	chr5:80705400-80710400	Weak transcription	Primary B cells from cord blood	blood
31	chr5:80705400-80713000	Weak transcription	NHDF-Ad	bronchial
32	chr5:80705600-80710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:80705600-80710400	Weak transcription	Fetal Thymus	thymus
34	chr5:80705600-80722000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:80705800-80709200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:80705800-80710400	Weak transcription	Primary T cells from cord blood	blood
37	chr5:80706000-80707800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:80706000-80710400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:80706400-80713000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:80706400-80715600	Weak transcription	NHLF	lung
41	chr5:80706400-80715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:80706600-80715600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:80706600-80716000	Weak transcription	Fetal Muscle Leg	muscle

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