Variant report

Variant	rs749053
Chromosome Location	chr14:55544476-55544477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:93323184..93323779-chr14:55544160..55544923,2	Hela-S3	cervix:
2	chr14:55518983..55521078-chr14:55544190..55545895,2	K562	blood:
3	chr14:55540374..55545656-chr14:55545839..55552985,7	K562	blood:
4	chr14:55517772..55519783-chr14:55542874..55545035,3	MCF-7	breast:
5	chr14:55544249..55545055-chr6:26054911..26055825,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10149981	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17253619	1.00[CHB][hapmap]
rs17253660	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952438	0.89[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2147965	0.92[CEU][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2147966	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2147967	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2147968	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28489980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28541962	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7147753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268012	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8004724	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806061	0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs749053	ATG14	cis	parietal	SCAN
rs749053	CNIH	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55530000-55554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:55541600-55556800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:55542800-55544600	Enhancers	GM12878-XiMat	blood
4	chr14:55542800-55544600	Weak transcription	HSMMtube	muscle
5	chr14:55543400-55545000	Enhancers	HMEC	breast
6	chr14:55543600-55545800	Enhancers	Placenta	Placenta
7	chr14:55543600-55546400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:55543800-55544600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:55543800-55544600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr14:55543800-55544800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:55543800-55544800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:55543800-55544800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr14:55543800-55544800	Flanking Active TSS	HepG2	liver
14	chr14:55543800-55545000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:55543800-55545000	Flanking Active TSS	Hela-S3	cervix
16	chr14:55543800-55545000	Flanking Active TSS	NHEK	skin
17	chr14:55543800-55545200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:55543800-55545400	Enhancers	Fetal Intestine Large	intestine
19	chr14:55544000-55544600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:55544000-55544600	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr14:55544000-55544600	Enhancers	A549	lung
22	chr14:55544000-55544800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:55544000-55544800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:55544000-55544800	Enhancers	Fetal Muscle Leg	muscle
25	chr14:55544000-55545000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:55544200-55544600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:55544200-55544600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:55544200-55544800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:55544200-55544800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:55544200-55544800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:55544200-55544800	Enhancers	Right Atrium	heart
32	chr14:55544200-55544800	Enhancers	Right Ventricle	heart
33	chr14:55544200-55544800	Enhancers	HSMM	muscle
34	chr14:55544200-55544800	Enhancers	NH-A	brain
35	chr14:55544200-55556800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:55544400-55544600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:55544400-55544600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:55544400-55544600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:55544400-55544600	Enhancers	Fetal Intestine Small	intestine
40	chr14:55544400-55544600	Enhancers	Fetal Muscle Trunk	muscle
41	chr14:55544400-55544600	Enhancers	Left Ventricle	heart
42	chr14:55544400-55544600	Enhancers	K562	blood
43	chr14:55544400-55544600	Enhancers	NHDF-Ad	bronchial
44	chr14:55544400-55544800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:55544400-55544800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:55544400-55544800	Enhancers	Stomach Mucosa	stomach
47	chr14:55544400-55556200	Weak transcription	Rectal Mucosa Donor 31	rectum

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