Variant report

Variant	rs17105457
Chromosome Location	chr14:77666937-77666938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77646354..77648830-chr14:77666464..77668226,2	MCF-7	breast:
2	chr14:77666547..77667401-chr14:77781947..77782484,2	MCF-7	breast:
3	chr14:77665649..77667313-chr14:77786292..77789288,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000009830	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000100577	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1078692	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11159251	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12881255	0.97[ASN][1000 genomes]
rs12883963	0.81[EUR][1000 genomes]
rs12891631	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12896627	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1467011	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1504521	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1848402	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1861420	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs207802	0.94[ASN][1000 genomes]
rs207804	0.94[ASN][1000 genomes]
rs2098381	0.81[EUR][1000 genomes]
rs2655996	0.86[ASN][1000 genomes]
rs2655997	0.95[ASN][1000 genomes]
rs2661828	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28437641	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28713541	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4021320	0.81[EUR][1000 genomes]
rs4021325	0.95[ASN][1000 genomes]
rs4899641	0.81[EUR][1000 genomes]
rs4903552	0.81[EUR][1000 genomes]
rs56163542	0.82[EUR][1000 genomes]
rs61990331	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6574354	0.81[EUR][1000 genomes]
rs6574355	0.81[EUR][1000 genomes]
rs70165	0.96[ASN][1000 genomes]
rs7140198	0.86[ASN][1000 genomes]
rs7148276	0.81[EUR][1000 genomes]
rs7148579	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7154702	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8010190	0.81[EUR][1000 genomes]
rs8012358	0.81[EUR][1000 genomes]
rs8012863	0.82[EUR][1000 genomes]
rs8014837	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8016243	0.81[EUR][1000 genomes]
rs8018250	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs888064	0.81[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
rs17105457	TMEM63C	cis	Whole Blood	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654000-77670000	Weak transcription	Brain Angular Gyrus	brain
2	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
3	chr14:77654600-77679400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:77657400-77667400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:77662000-77674400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:77662400-77669800	Weak transcription	Brain Anterior Caudate	brain
7	chr14:77662400-77669800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:77662800-77669800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:77662800-77671600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:77663800-77668600	Weak transcription	Fetal Intestine Small	intestine
11	chr14:77664200-77667400	Enhancers	Fetal Brain Male	brain
12	chr14:77666000-77667600	Strong transcription	Fetal Brain Female	brain
13	chr14:77666000-77670200	Weak transcription	Brain Germinal Matrix	brain
14	chr14:77666400-77667000	Enhancers	Fetal Muscle Trunk	muscle
15	chr14:77666400-77667600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:77666800-77667000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:77666800-77667000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:77666800-77667200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:77666800-77668400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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