Variant report

Variant	rs1504521
Chromosome Location	chr14:77655516-77655517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77654298..77656705-chr14:77661516..77663425,2	MCF-7	breast:
2	chr14:77653496..77656374-chr14:77924013..77925572,2	MCF-7	breast:
3	chr14:77653324..77656193-chr14:77787272..77789183,2	K562	blood:

Variant related genes	Relation type
ENSG00000100577	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000151445	Chromatin interaction

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];0.93[ASN][1000 genomes]
rs11159251	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12881255	0.92[ASN][1000 genomes]
rs12883963	0.83[EUR][1000 genomes]
rs12891631	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12896627	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1467011	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17105457	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1848402	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1861420	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs207802	0.91[ASN][1000 genomes]
rs207804	0.91[ASN][1000 genomes]
rs2080384	0.82[EUR][1000 genomes]
rs2098381	0.83[EUR][1000 genomes]
rs2655996	0.83[ASN][1000 genomes]
rs2655997	0.91[ASN][1000 genomes]
rs2661828	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28437641	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28713541	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4021320	0.84[EUR][1000 genomes]
rs4021325	0.91[ASN][1000 genomes]
rs4899641	0.83[EUR][1000 genomes]
rs4903552	0.83[EUR][1000 genomes]
rs61990331	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6574354	0.84[EUR][1000 genomes]
rs6574355	0.84[EUR][1000 genomes]
rs70165	0.93[ASN][1000 genomes]
rs7140198	0.83[ASN][1000 genomes]
rs7148276	0.84[EUR][1000 genomes]
rs7148579	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154702	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8010190	0.83[EUR][1000 genomes]
rs8012358	0.83[EUR][1000 genomes]
rs8012863	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8014837	0.85[ASN][1000 genomes]
rs8016243	0.83[EUR][1000 genomes]
rs8018250	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs888064	0.84[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
rs1504521	TMEM63C	cis	Whole Blood	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77651800-77659000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr14:77653600-77662000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:77653800-77655800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:77654000-77665200	Weak transcription	Brain Germinal Matrix	brain
5	chr14:77654000-77666800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:77654000-77670000	Weak transcription	Brain Angular Gyrus	brain
7	chr14:77654200-77655800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:77654200-77655800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:77654200-77661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
11	chr14:77654400-77656000	Weak transcription	Lung	lung
12	chr14:77654400-77659000	Weak transcription	Fetal Brain Male	brain
13	chr14:77654600-77659600	Weak transcription	Fetal Brain Female	brain
14	chr14:77654600-77679400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:77654800-77655800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:77654800-77656200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:77655000-77664400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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