Variant report

Variant	rs10514218
Chromosome Location	chr5:80604733-80604734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10942946	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11739833	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743842	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745275	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11749113	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11953113	0.93[EUR][1000 genomes]
rs11957137	0.93[EUR][1000 genomes]
rs12516089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12517538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12518716	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12523578	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878594	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16878597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17231292	1.00[ASN][1000 genomes]
rs62365032	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62365035	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62365038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62365866	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72771170	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72771190	1.00[ASN][1000 genomes]
rs72771198	1.00[ASN][1000 genomes]
rs72773017	1.00[ASN][1000 genomes]
rs7731320	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs10514218	CTC-281B15.1	cis	Skin Sun Exposed Lower leg	GTEx
rs10514218	CTC-281B15.1	cis	Adipose Subcutaneous	GTEx
rs10514218	CTC-281B15.1	cis	Esophagus Mucosa	GTEx
rs10514218	CTC-281B15.1	cis	Thyroid	GTEx
rs10514218	CTC-281B15.1	cis	Artery Tibial	GTEx
rs10514218	CTC-281B15.1	cis	Esophagus Muscularis	GTEx
rs10514218	CTC-281B15.1	cis	lung	GTEx
rs10514218	CTC-281B15.1	cis	Nerve Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80598000-80605200	Weak transcription	Ovary	ovary
2	chr5:80598200-80612400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:80598400-80604800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:80598400-80605200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:80598400-80606800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:80598400-80606800	Weak transcription	Right Ventricle	heart
7	chr5:80598400-80611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:80598600-80604800	Weak transcription	Primary B cells from cord blood	blood
9	chr5:80598600-80605000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:80598600-80605000	Weak transcription	Placenta	Placenta
11	chr5:80598600-80605000	Weak transcription	Left Ventricle	heart
12	chr5:80598600-80605000	Weak transcription	HUVEC	blood vessel
13	chr5:80598600-80605200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:80598600-80605400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:80598600-80606400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:80598600-80606400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:80598600-80606400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:80598600-80606400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:80598600-80606600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:80598600-80606600	Weak transcription	Aorta	Aorta
21	chr5:80598600-80606600	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:80598600-80606600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:80598600-80606600	Weak transcription	Lung	lung
24	chr5:80598600-80606600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:80598600-80606600	Weak transcription	HSMMtube	muscle
26	chr5:80598600-80606800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:80598600-80607000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:80598600-80607600	Weak transcription	Fetal Kidney	kidney
29	chr5:80598600-80608200	Weak transcription	Fetal Stomach	stomach
30	chr5:80598600-80608800	Weak transcription	Brain Germinal Matrix	brain
31	chr5:80598600-80609600	Weak transcription	Gastric	stomach
32	chr5:80598600-80610000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:80598600-80611200	Weak transcription	Brain Anterior Caudate	brain
34	chr5:80598600-80611200	Weak transcription	Fetal Brain Male	brain
35	chr5:80598600-80611200	Weak transcription	Small Intestine	intestine
36	chr5:80598600-80611200	Weak transcription	Stomach Mucosa	stomach
37	chr5:80598600-80611800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:80598800-80605000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:80598800-80606600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:80598800-80606800	Weak transcription	Fetal Brain Female	brain
41	chr5:80598800-80611000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:80598800-80611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:80599200-80610000	Weak transcription	Pancreas	Pancrea
44	chr5:80599200-80612200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:80599400-80604800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:80599400-80610400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:80599600-80604800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:80599600-80605400	Weak transcription	Adipose Nuclei	Adipose
49	chr5:80599600-80606800	Weak transcription	A549	lung
50	chr5:80599600-80609200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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