Variant report

Variant	rs8016060
Chromosome Location	chr14:70799992-70799993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70798672..70801263-chr14:70804505..70807177,2	K562	blood:
2	chr14:70798472..70800440-chr14:70832228..70834010,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1044527	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11158855	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11623974	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11626325	0.85[ASN][1000 genomes]
rs12146968	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12147722	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12147825	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12433355	0.91[ASN][1000 genomes]
rs12588244	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12589335	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12590679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12879801	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12887715	0.85[ASN][1000 genomes]
rs12890415	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2332372	0.82[ASN][1000 genomes]
rs2332373	0.80[ASN][1000 genomes]
rs2332421	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34802428	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35164282	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35186208	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35469188	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35671518	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35859016	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759774	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61977537	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61977542	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61977552	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7141407	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7143274	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7144424	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7152898	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8005362	0.89[ASN][1000 genomes]
rs8014520	0.85[ASN][1000 genomes]
rs8015005	0.83[ASN][1000 genomes]
rs8015988	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8021180	0.84[AMR][1000 genomes];0.94[ASN][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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8016060	C14orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70784000-70801000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70784200-70800600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:70788200-70813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:70791200-70808600	Weak transcription	HUVEC	blood vessel
5	chr14:70792000-70809800	Weak transcription	Hela-S3	cervix
6	chr14:70792800-70801000	Weak transcription	Small Intestine	intestine
7	chr14:70792800-70825200	Weak transcription	NH-A	brain
8	chr14:70795600-70800200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:70795600-70800400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:70795800-70800200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:70797600-70801400	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr14:70797600-70813000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:70798000-70817200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:70798200-70802200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr14:70798400-70802200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr14:70798400-70804200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:70798600-70800000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:70798600-70800000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
19	chr14:70798600-70800000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:70798600-70800000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:70798600-70800000	ZNF genes & repeats	Brain Germinal Matrix	brain
22	chr14:70798600-70800000	ZNF genes & repeats	Thymus	Thymus
23	chr14:70798600-70800200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
24	chr14:70798600-70800200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr14:70798600-70800200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:70798600-70800400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:70798600-70801200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
28	chr14:70798600-70801200	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr14:70798600-70801200	ZNF genes & repeats	GM12878-XiMat	blood
30	chr14:70798600-70801800	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr14:70798600-70802000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr14:70798600-70802200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr14:70798600-70802200	ZNF genes & repeats	Fetal Brain Female	brain
34	chr14:70798600-70802200	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr14:70798600-70802200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr14:70798600-70802200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr14:70798600-70802400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:70798600-70802400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr14:70798600-70803800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr14:70798800-70800000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:70798800-70800000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:70798800-70800000	ZNF genes & repeats	HSMM	muscle
43	chr14:70798800-70800200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:70798800-70800200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
45	chr14:70798800-70800800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:70798800-70800800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:70798800-70800800	ZNF genes & repeats	Fetal Lung	lung
48	chr14:70798800-70800800	ZNF genes & repeats	A549	lung
49	chr14:70798800-70801400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:70798800-70801600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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