Variant report

Variant	rs1013008
Chromosome Location	chr5:80704753-80704754
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	chr5:80704035..80705625-chr5:80712249..80714878,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10044997	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1013009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519060	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12697702	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13154060	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2042980	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35627535	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35856763	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60995704	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62366200	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62366205	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366206	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[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	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

No data

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	chr5:80698600-80705000	Weak transcription	Fetal Intestine Large	intestine
10	chr5:80700200-80715000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:80700400-80712400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:80701600-80715800	Weak transcription	Brain Anterior Caudate	brain
13	chr5:80701600-80715800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:80701800-80722000	Weak transcription	Ovary	ovary
15	chr5:80702000-80716000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:80702200-80733600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:80702400-80715800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:80703000-80705600	Strong transcription	Fetal Thymus	thymus
19	chr5:80703000-80705800	Strong transcription	Primary T cells from cord blood	blood
20	chr5:80703000-80706000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:80703200-80704800	Strong transcription	Primary hematopoietic stem cells	blood
22	chr5:80703200-80714000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:80703200-80714000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:80703400-80716000	Weak transcription	Fetal Brain Female	brain
26	chr5:80703600-80706000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:80703600-80706600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:80703800-80705600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:80703800-80705800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:80703800-80706000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:80704000-80705200	Enhancers	Adipose Nuclei	Adipose
32	chr5:80704000-80705400	Enhancers	NHDF-Ad	bronchial
33	chr5:80704000-80705600	Enhancers	Osteobl	bone
34	chr5:80704000-80706400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:80704000-80716800	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:80704200-80705200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:80704200-80708400	Enhancers	Liver	Liver
38	chr5:80704400-80706400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:80704400-80706400	Enhancers	NHLF	lung
40	chr5:80704400-80721600	Weak transcription	Fetal Stomach	stomach
41	chr5:80704400-80747600	Weak transcription	Placenta	Placenta
42	chr5:80704600-80708400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:80704600-80721600	Weak transcription	Fetal Kidney	kidney

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