Variant report

Variant	rs12147722
Chromosome Location	chr14:70785019-70785020
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70512458..70513411-chr14:70784200..70785355,5	MCF-7	breast:
2	chr14:70512419..70513373-chr14:70784323..70785220,3	K562	blood:
3	chr14:70553587..70554496-chr14:70784377..70785048,4	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1044527	0.88[ASN][1000 genomes]
rs11158855	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11623974	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11626325	0.83[ASN][1000 genomes]
rs12146968	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12147825	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12433355	0.86[ASN][1000 genomes]
rs12588244	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12589335	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12590679	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12879801	0.93[ASN][1000 genomes]
rs12887715	0.83[ASN][1000 genomes]
rs12890415	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2332372	0.80[ASN][1000 genomes]
rs2332421	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34802428	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35164282	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35186208	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35469188	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35671518	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35859016	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3759774	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61977537	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61977542	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61977552	0.85[ASN][1000 genomes]
rs7141407	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7143274	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7144424	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7152898	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8005362	0.93[ASN][1000 genomes]
rs8014520	0.83[ASN][1000 genomes]
rs8015005	0.80[ASN][1000 genomes]
rs8015988	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8016060	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8021180	0.98[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
rs12147722	C14orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70781200-70796800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:70782600-70791800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:70782600-70791800	Weak transcription	HSMMtube	muscle
4	chr14:70783200-70792400	Weak transcription	HMEC	breast
5	chr14:70783400-70799200	Weak transcription	NHEK	skin
6	chr14:70783600-70791800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:70783600-70791800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:70783600-70792000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:70783600-70798600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:70783800-70786000	Enhancers	Liver	Liver
11	chr14:70784000-70785400	Enhancers	Stomach Mucosa	stomach
12	chr14:70784000-70792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:70784000-70792400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:70784000-70801000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:70784200-70792200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:70784200-70800600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:70784600-70790800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:70784600-70791000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:70784600-70798600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:70784800-70785400	Enhancers	A549	lung
21	chr14:70784800-70798800	Weak transcription	Gastric	stomach
22	chr14:70785000-70785400	Weak transcription	Fetal Intestine Large	intestine
23	chr14:70785000-70785400	Weak transcription	Fetal Intestine Small	intestine
24	chr14:70785000-70785400	Weak transcription	Pancreas	Pancrea
25	chr14:70785000-70785400	Enhancers	HepG2	liver
26	chr14:70785000-70791200	Weak transcription	Duodenum Mucosa	Duodenum

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