Variant report

Variant	rs73125917
Chromosome Location	chr5:79423268-79423269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr5:79422725-79423347	GM12878	blood:	n/a	n/a
2	ATF2	chr5:79422805-79423276	GM12878	blood:	n/a	n/a
3	YY1	chr5:79422893-79423414	GM12878	blood:	n/a	n/a
4	EP300	chr5:79422862-79423345	GM12878	blood:	n/a	chr5:79422996-79423010
5	FOXM1	chr5:79422727-79423297	GM12878	blood:	n/a	n/a
6	BATF	chr5:79422775-79423413	GM12878	blood:	n/a	n/a
7	ZNF143	chr5:79423171-79423375	GM12878	blood:	n/a	n/a
8	JUND	chr5:79422968-79423297	K562	blood:	n/a	n/a
9	BHLHE40	chr5:79422868-79423399	GM12878	blood:	n/a	n/a
10	TBP	chr5:79422935-79423433	GM12878	blood:	n/a	n/a
11	IRF4	chr5:79422890-79423372	GM12878	blood:	n/a	n/a
12	IKZF1	chr5:79422850-79423409	GM12878	blood:	n/a	n/a
13	NFIC	chr5:79422623-79423527	GM12878	blood:	n/a	n/a
14	BCL11A	chr5:79422799-79423332	GM12878	blood:	n/a	n/a
15	WRNIP1	chr5:79423095-79423405	GM12878	blood:	n/a	n/a
16	RUNX3	chr5:79422784-79423440	GM12878	blood:	n/a	chr5:79423015-79423030
17	POLR2A	chr5:79422793-79423343	HL-60	blood:	n/a	n/a
18	ATF2	chr5:79422776-79423320	GM12878	blood:	n/a	n/a
19	NFYB	chr5:79422978-79423276	GM12878	blood:	n/a	n/a
20	STAT3	chr5:79422866-79423402	GM12878	blood:	n/a	chr5:79422943-79422951
21	CEBPB	chr5:79422761-79423455	GM12878	blood:	n/a	n/a
22	SP1	chr5:79422787-79423269	GM12878	blood:	n/a	n/a
23	RUNX3	chr5:79422648-79423496	GM12878	blood:	n/a	chr5:79423015-79423030
24	EP300	chr5:79422812-79423303	GM12878	blood:	n/a	chr5:79422996-79423010
25	EP300	chr5:79422819-79423377	GM12878	blood:	n/a	chr5:79422996-79423010
26	RCOR1	chr5:79422825-79423388	GM12878	blood:	n/a	n/a
27	USF2	chr5:79422930-79423312	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:79423256-79423306	HRCEpiC	kidney:	n/a
2	chr5:79423256-79423306	CMK	blood:	n/a
3	chr5:79423256-79423306	NT2-D1	testis:	n/a
4	chr5:79423256-79423306	HCM	heart:	n/a
5	chr5:79423256-79423306	AoSMC	blood vessel:	n/a
6	chr5:79423256-79423306	ECC-1	luminal epithelium:	n/a
7	chr5:79423256-79423306	LNCaP	prostate:	n/a
8	chr5:79423256-79423306	A549	lung:	n/a
9	chr5:79423256-79423306	HUVEC	blood vessel:	n/a
10	chr5:79423256-79423306	HRPEpiC	eye:	n/a
11	chr5:79423256-79423306	HCPEpiC	choroid plexus:	n/a
12	chr5:79423256-79423306	HEK293	kidney:	embryo
13	chr5:79423256-79423306	IMR90	lung:	fetal
14	chr5:79423256-79423306	MCF-7	breast:	n/a
15	chr5:79423256-79423306	Hepatocyte	liver:	n/a
16	chr5:79423256-79423306	SAEC	small airway:	n/a
17	chr5:79423256-79423306	RPTEC	kidney:	n/a
18	chr5:79423256-79423306	U87	brain:	n/a
19	chr5:79423256-79423306	GM12892	blood:	n/a
20	chr5:79423256-79423306	NHBE	bronchial:	n/a
21	chr5:79423256-79423306	HIPEpiC	eye:	n/a
22	chr5:79423256-79423306	GM12891	blood:	n/a
23	chr5:79423256-79423306	SKMC	muscle:	n/a
24	chr5:79423256-79423306	HCF	heart:	n/a
25	chr5:79423256-79423306	T-47D	breast:	n/a
26	chr5:79423256-79423306	AG04449	skin:	fetal
27	chr5:79423256-79423306	ovcar-3	ovarian:	n/a
28	chr5:79423256-79423306	HMEC	breast:	n/a
29	chr5:79423256-79423306	Hela-S3	cervix:	n/a
30	chr5:79423256-79423306	HAEpiC	amniotic membrane:	n/a
31	chr5:79423256-79423306	HPAEpiC	pulmonary alveolar:	n/a
32	chr5:79423256-79423306	H1-hESC	embryonic stem cell:	embryo
33	chr5:79423256-79423306	BE2_C	brain:	n/a
34	chr5:79423256-79423306	PFSK-1	brain:	n/a
35	chr5:79423256-79423306	NB4	blood:	n/a
36	chr5:79423256-79423306	AG04450	lung:	fetal
37	chr5:79423256-79423306	GM12878	blood:	n/a
38	chr5:79423256-79423306	PANC-1	pancreas:	n/a
39	chr5:79423256-79423306	NHDF-neo	bronchial:	n/a
40	chr5:79423256-79423306	AG09309	skin:	n/a
41	chr5:79423256-79423306	GM19239	blood:	n/a
42	chr5:79423256-79423306	PrEC	prostate:	n/a
43	chr5:79423256-79423306	HEEpiC	esophagus:	n/a
44	chr5:79423256-79423306	SK-N-SH	brain:	n/a
45	chr5:79423256-79423306	SK-N-MC	brain:	n/a
46	chr5:79423256-79423306	GM06990	blood:	n/a
47	chr5:79423256-79423306	SK-N-SH_RA	brain:	n/a
48	chr5:79423256-79423306	MCF10A-Er-Src	breast:	n/a
49	chr5:79423256-79423306	HepG2	liver:	n/a
50	chr5:79423256-79423306	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79423046..79425756-chr5:79550269..79553191,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251675	TF binding region
ENSG00000251675	CpG island
ENSG00000164300	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58965928	0.82[AFR][1000 genomes]
rs73125912	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73125913	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73125929	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv598744	chr5:79388745-79423347	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79407400-79424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:79410000-79430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:79412600-79424200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:79417000-79437000	Weak transcription	Pancreas	Pancrea
5	chr5:79417400-79425400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:79417400-79430400	Weak transcription	Dnd41	blood
7	chr5:79418200-79424000	Weak transcription	Fetal Stomach	stomach
8	chr5:79419400-79423600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:79419600-79435200	Weak transcription	Liver	Liver
10	chr5:79420600-79424000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:79420800-79424000	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:79420800-79437000	Weak transcription	Lung	lung
13	chr5:79421000-79437000	Weak transcription	Fetal Brain Male	brain
14	chr5:79421200-79424000	Weak transcription	Placenta	Placenta
15	chr5:79421200-79435400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:79421200-79436800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:79421400-79423400	Enhancers	HSMMtube	muscle
18	chr5:79421400-79424600	Enhancers	NHDF-Ad	bronchial
19	chr5:79421600-79423600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:79421600-79424000	Weak transcription	Fetal Intestine Large	intestine
21	chr5:79421600-79428600	Weak transcription	Thymus	Thymus
22	chr5:79421600-79435800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:79421600-79438800	Weak transcription	Esophagus	oesophagus
24	chr5:79421800-79423400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:79421800-79424400	Enhancers	Osteobl	bone
26	chr5:79421800-79427000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr5:79421800-79430800	Weak transcription	Spleen	Spleen
28	chr5:79422000-79424000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:79422000-79424400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:79422200-79423400	Enhancers	GM12878-XiMat	blood
31	chr5:79422200-79427400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:79422200-79429600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:79422400-79427600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:79422800-79424000	Weak transcription	Fetal Kidney	kidney
35	chr5:79423000-79423400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:79423000-79423400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr5:79423000-79423400	Strong transcription	Primary T cells from cord blood	blood
38	chr5:79423000-79423400	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr5:79423000-79424000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:79423000-79427200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:79423200-79423400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr5:79423200-79423400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr5:79423200-79423400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:79423200-79423400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:79423200-79423400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr5:79423200-79424000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:79423200-79424200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr5:79423200-79426400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr5:79423200-79427000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:79423200-79427400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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