Variant report

Variant	rs74059925
Chromosome Location	chr14:69730485-69730486
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr14:69729940-69730631	SK-N-SH	brain:	n/a	n/a
2	RCOR1	chr14:69729727-69730943	IMR90	lung:	n/a	n/a
3	CEBPB	chr14:69730101-69730539	IMR90	lung:	n/a	n/a
4	MXI1	chr14:69729852-69731298	IMR90	lung:	n/a	chr14:69730408-69730423
5	EP300	chr14:69729876-69730601	SK-N-SH	brain:	n/a	chr14:69730215-69730231
6	MAX	chr14:69729940-69730503	SK-N-SH	brain:	n/a	n/a
7	MAX	chr14:69730001-69730520	SK-N-SH	brain:	n/a	n/a
8	JUND	chr14:69729938-69730558	SK-N-SH	brain:	n/a	n/a
9	JUND	chr14:69729765-69730654	SK-N-SH	brain:	n/a	n/a
10	JUND	chr14:69729943-69730527	SK-N-SH	brain:	n/a	n/a
11	MXI1	chr14:69729765-69730659	SK-N-SH	brain:	n/a	chr14:69730408-69730423
12	TCF12	chr14:69729802-69730705	SK-N-SH	brain:	n/a	n/a
13	NFIC	chr14:69729957-69730536	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr14:69729814-69730629	SK-N-SH	brain:	n/a	n/a
15	PBX3	chr14:69729965-69730534	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69730478-69730528	H1-hESC	embryonic stem cell:	embryo
2	chr14:69730478-69730528	HCPEpiC	choroid plexus:	n/a
3	chr14:69730478-69730528	IMR90	lung:	fetal
4	chr14:69730478-69730528	HUVEC	blood vessel:	n/a
5	chr14:69730478-69730528	PrEC	prostate:	n/a
6	chr14:69730478-69730528	NB4	blood:	n/a
7	chr14:69730478-69730528	HCF	heart:	n/a
8	chr14:69730478-69730528	HEEpiC	esophagus:	n/a
9	chr14:69730478-69730528	AG04450	lung:	fetal
10	chr14:69730478-69730528	ECC-1	luminal epithelium:	n/a
11	chr14:69730478-69730528	SAEC	small airway:	n/a
12	chr14:69730478-69730528	GM06990	blood:	n/a
13	chr14:69730478-69730528	BE2_C	brain:	n/a
14	chr14:69730478-69730528	HCM	heart:	n/a
15	chr14:69730478-69730528	HL-60	blood:	n/a
16	chr14:69730478-69730528	SK-N-SH	brain:	n/a
17	chr14:69730478-69730528	CMK	blood:	n/a
18	chr14:69730478-69730528	HepG2	liver:	n/a
19	chr14:69730478-69730528	RPTEC	kidney:	n/a
20	chr14:69730478-69730528	NT2-D1	testis:	n/a
21	chr14:69730478-69730528	GM19239	blood:	n/a
22	chr14:69730478-69730528	PFSK-1	brain:	n/a
23	chr14:69730478-69730528	MCF-7	breast:	n/a
24	chr14:69730478-69730528	LNCaP	prostate:	n/a
25	chr14:69730478-69730528	T-47D	breast:	n/a
26	chr14:69730478-69730528	K562	blood:	n/a
27	chr14:69730478-69730528	NHBE	bronchial:	n/a
28	chr14:69730478-69730528	HRE	kidney:	n/a
29	chr14:69730478-69730528	SK-N-SH_RA	brain:	n/a
30	chr14:69730478-69730528	SK-N-MC	brain:	n/a
31	chr14:69730478-69730528	HEK293	kidney:	embryo
32	chr14:69730478-69730528	MCF10A-Er-Src	breast:	n/a
33	chr14:69730478-69730528	U87	brain:	n/a
34	chr14:69730478-69730528	NHDF-neo	bronchial:	n/a
35	chr14:69730478-69730528	Hepatocyte	liver:	n/a
36	chr14:69730478-69730528	A549	lung:	n/a
37	chr14:69730478-69730528	ProgFib	skin:	n/a
38	chr14:69730478-69730528	AG09319	gingival:	n/a
39	chr14:69730478-69730528	Caco-2	colon:	n/a
40	chr14:69730478-69730528	PANC-1	pancreas:	n/a
41	chr14:69730478-69730528	ovcar-3	ovarian:	n/a
42	chr14:69730478-69730528	AG09309	skin:	n/a
43	chr14:69730478-69730528	HMEC	breast:	n/a
44	chr14:69730478-69730528	GM12891	blood:	n/a
45	chr14:69730478-69730528	Hela-S3	cervix:	n/a
46	chr14:69730478-69730528	BJ	skin:	n/a
47	chr14:69730478-69730528	HPAEpiC	pulmonary alveolar:	n/a
48	chr14:69730478-69730528	HRPEpiC	eye:	n/a
49	chr14:69730478-69730528	GM12892	blood:	n/a
50	chr14:69730478-69730528	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr14:69716336..69718485-chr14:69728021..69730750,2	MCF-7	breast:
2	chr14:69727858..69730581-chr14:69738722..69740609,2	MCF-7	breast:
3	chr14:69728770..69731515-chr14:69782334..69785257,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258520	TF binding region
ENSG00000258520	CpG island

rs_ID	r²[population]
rs74059924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74059929	1.00[AMR][1000 genomes]

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69728200-69732200	Weak transcription	Aorta	Aorta
2	chr14:69728400-69730800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:69728400-69733400	Weak transcription	Pancreas	Pancrea
4	chr14:69728600-69730600	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr14:69728600-69730800	Enhancers	Right Atrium	heart
6	chr14:69728800-69730600	Enhancers	Fetal Brain Male	brain
7	chr14:69728800-69730800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:69728800-69731000	Enhancers	Adipose Nuclei	Adipose
9	chr14:69728800-69731200	Enhancers	NHLF	lung
10	chr14:69729000-69730600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr14:69729000-69730800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:69729000-69731200	Enhancers	Osteobl	bone
13	chr14:69729000-69737600	Weak transcription	Spleen	Spleen
14	chr14:69729200-69731600	Enhancers	Fetal Intestine Small	intestine
15	chr14:69729200-69734400	Weak transcription	Fetal Heart	heart
16	chr14:69729200-69737600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:69729400-69730600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:69729400-69730600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:69729400-69736000	Enhancers	Fetal Intestine Large	intestine
20	chr14:69729400-69737800	Weak transcription	Fetal Brain Female	brain
21	chr14:69729600-69736000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:69729800-69730600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:69729800-69730800	Enhancers	NH-A	brain
24	chr14:69730000-69730800	Enhancers	Brain Angular Gyrus	brain
25	chr14:69730000-69731200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:69730200-69730600	Active TSS	Brain Anterior Caudate	brain
27	chr14:69730200-69730800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:69730200-69730800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr14:69730200-69730800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:69730200-69730800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr14:69730200-69730800	Enhancers	Left Ventricle	heart
32	chr14:69730200-69730800	Enhancers	Right Ventricle	heart
33	chr14:69730200-69730800	Flanking Active TSS	HSMM	muscle
34	chr14:69730400-69730600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr14:69730400-69730600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
36	chr14:69730400-69730800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:69730400-69730800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:69730400-69730800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:69730400-69730800	Flanking Active TSS	HSMMtube	muscle
40	chr14:69730400-69730800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr14:69730400-69733200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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