Variant report

Variant	rs1848402
Chromosome Location	chr14:77659009-77659010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10147322	0.81[EUR][1000 genomes]
rs1078692	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11159251	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12881255	0.92[ASN][1000 genomes]
rs12883963	0.83[EUR][1000 genomes]
rs12891631	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12896627	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1467011	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1504521	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17105457	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1861420	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs207802	0.90[ASN][1000 genomes]
rs207804	0.90[ASN][1000 genomes]
rs2080384	0.81[EUR][1000 genomes]
rs2098381	0.83[EUR][1000 genomes]
rs2655996	0.82[ASN][1000 genomes]
rs2655997	0.90[ASN][1000 genomes]
rs2661828	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28437641	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28713541	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4021320	0.83[EUR][1000 genomes]
rs4021325	0.90[ASN][1000 genomes]
rs4899641	0.83[EUR][1000 genomes]
rs4903552	0.83[EUR][1000 genomes]
rs61990331	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6574354	0.83[EUR][1000 genomes]
rs6574355	0.83[EUR][1000 genomes]
rs70165	0.92[ASN][1000 genomes]
rs7140198	0.82[ASN][1000 genomes]
rs7148276	0.83[EUR][1000 genomes]
rs7148579	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7154702	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8010190	0.83[EUR][1000 genomes]
rs8012358	0.83[EUR][1000 genomes]
rs8012863	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8014837	0.83[ASN][1000 genomes]
rs8016243	0.83[EUR][1000 genomes]
rs8018250	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs888064	0.83[EUR][1000 genomes]
rs9788430	0.82[EUR][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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1848402	TMEM63C	cis	Whole Blood	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77653600-77662000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:77654000-77665200	Weak transcription	Brain Germinal Matrix	brain
3	chr14:77654000-77666800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:77654000-77670000	Weak transcription	Brain Angular Gyrus	brain
5	chr14:77654200-77661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
7	chr14:77654600-77659600	Weak transcription	Fetal Brain Female	brain
8	chr14:77654600-77679400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:77655000-77664400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:77657400-77667400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:77659000-77659400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr14:77659000-77662800	Enhancers	Fetal Brain Male	brain

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