Variant report

Variant	rs7080731
Chromosome Location	chr10:93950268-93950269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10882029	0.93[ASN][1000 genomes]
rs10882034	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882035	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882036	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882039	0.90[ASN][1000 genomes]
rs10882043	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11186840	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186848	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186851	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11186862	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186869	0.90[ASN][1000 genomes]
rs11186872	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12246924	0.93[ASN][1000 genomes]
rs2011483	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3740302	0.90[ASN][1000 genomes]
rs56072007	0.92[ASN][1000 genomes]
rs57381242	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59386062	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66521023	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66882667	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7073372	0.93[ASN][1000 genomes]
rs7080101	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7098170	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7900400	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7917088	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs932820	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9804247	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv975763	chr10:93822289-94105956	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7080731	TNKS2	cis	Thyroid	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93911800-93953200	Weak transcription	Pancreas	Pancrea
2	chr10:93926400-93976000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:93926600-93976000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr10:93926800-93982400	Weak transcription	HSMMtube	muscle
5	chr10:93927000-93963800	Weak transcription	Brain Angular Gyrus	brain
6	chr10:93927000-93966200	Weak transcription	Ovary	ovary
7	chr10:93927000-93970800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr10:93927200-93967600	Weak transcription	Adipose Nuclei	Adipose
9	chr10:93927200-93980400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:93927400-93960000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:93927400-93966600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:93927400-93970800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr10:93927400-93997800	Weak transcription	Fetal Intestine Large	intestine
14	chr10:93929200-93984800	Weak transcription	Fetal Intestine Small	intestine
15	chr10:93929400-93967800	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:93930000-93958200	Weak transcription	Hela-S3	cervix
17	chr10:93934200-93976200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:93936600-93958000	Weak transcription	Small Intestine	intestine
19	chr10:93937200-93950600	Weak transcription	HepG2	liver
20	chr10:93940200-93971200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:93940600-93958400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:93940600-93970800	Weak transcription	Fetal Stomach	stomach
23	chr10:93941600-93958000	Weak transcription	Brain Anterior Caudate	brain
24	chr10:93941600-93958000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr10:93941800-93958000	Weak transcription	Brain Hippocampus Middle	brain
26	chr10:93941800-93968000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:93941800-93971200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr10:93942200-93953600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr10:93943600-93958200	Weak transcription	K562	blood
30	chr10:93945200-93954000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr10:93945800-93963800	Weak transcription	Fetal Brain Female	brain
32	chr10:93946600-93964000	Weak transcription	Left Ventricle	heart
33	chr10:93947400-93954800	Weak transcription	Fetal Heart	heart
34	chr10:93947600-93958200	Weak transcription	Brain Substantia Nigra	brain
35	chr10:93947800-93967800	Weak transcription	GM12878-XiMat	blood
36	chr10:93949000-93961800	Weak transcription	Primary T cells from cord blood	blood
37	chr10:93949600-93950600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr10:93949800-93958200	Weak transcription	Liver	Liver
39	chr10:93950000-93952400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr10:93950200-93952200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr10:93950200-93952600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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