Variant report

Variant	rs12050161
Chromosome Location	chr14:69360631-69360632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:69359960-69361233	A549	lung:	n/a	n/a
2	POLR2A	chr14:69360341-69360781	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr14:69360356-69360658	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69358005..69360954-chr14:69365847..69368420,3	MCF-7	breast:
2	chr14:69351207..69353545-chr14:69360069..69361747,2	MCF-7	breast:
3	chr14:69335131..69337608-chr14:69359625..69361996,2	MCF-7	breast:
4	chr14:69360053..69363258-chr14:69363316..69367429,3	K562	blood:

No data

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000258565	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10151704	0.86[ASN][1000 genomes]
rs12586591	0.84[JPT][hapmap]
rs15993	0.84[JPT][hapmap]
rs181484	1.00[JPT][hapmap]
rs2268986	0.84[JPT][hapmap]
rs3784132	0.93[CHB][hapmap]
rs6573864	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7141689	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72733518	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[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	nsv902074	chr14:69339691-69360631	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Periodontitis (Mean PAL)	24024966	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12050161	ZFYVE26	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69336400-69364200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr14:69336400-69378200	Strong transcription	Primary T cells from cord blood	blood
3	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
4	chr14:69337600-69361200	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr14:69337800-69379200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:69337800-69380600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:69338000-69365400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr14:69338000-69366200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:69338000-69378800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:69338200-69361400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:69338200-69361600	Strong transcription	Ovary	ovary
12	chr14:69338200-69361800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:69338200-69362200	Strong transcription	Fetal Muscle Leg	muscle
14	chr14:69338200-69362800	Strong transcription	Placenta	Placenta
15	chr14:69338200-69365000	Strong transcription	Pancreas	Pancrea
16	chr14:69338200-69365600	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr14:69338200-69375000	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr14:69338200-69378200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:69338400-69377800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:69338600-69370600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:69339200-69394600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:69339600-69360800	Strong transcription	Fetal Stomach	stomach
23	chr14:69340800-69366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:69341800-69364800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:69341800-69366400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:69341800-69378400	Strong transcription	Fetal Intestine Small	intestine
27	chr14:69341800-69380400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:69342000-69378200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:69342200-69378200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:69343400-69362600	Strong transcription	Thymus	Thymus
31	chr14:69345800-69394800	Weak transcription	Small Intestine	intestine
32	chr14:69346800-69379800	Strong transcription	Fetal Intestine Large	intestine
33	chr14:69348200-69389200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr14:69348600-69364800	Weak transcription	Stomach Mucosa	stomach
35	chr14:69348600-69375200	Weak transcription	K562	blood
36	chr14:69351400-69360800	Weak transcription	Fetal Heart	heart
37	chr14:69351400-69365600	Weak transcription	Fetal Kidney	kidney
38	chr14:69352000-69361000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:69353000-69371600	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:69353200-69361000	Strong transcription	NHLF	lung
41	chr14:69353800-69360800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:69354000-69393200	Strong transcription	NHEK	skin
43	chr14:69354400-69362800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:69354400-69363000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:69354400-69378600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:69354600-69361000	Strong transcription	Esophagus	oesophagus
47	chr14:69354600-69361200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr14:69354600-69361200	Strong transcription	Lung	lung
49	chr14:69354600-69361600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr14:69354600-69362200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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