Variant report

Variant	rs13074448
Chromosome Location	chr3:177652023-177652024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:177651854-177652244	PFSK-1	brain:	n/a	n/a
2	TEAD4	chr3:177651475-177652299	SK-N-SH	brain:	n/a	n/a
3	CEBPB	chr3:177651759-177652207	A549	lung:	n/a	chr3:177652133-177652144
4	PBX3	chr3:177651760-177652652	SK-N-SH	brain:	n/a	n/a
5	EP300	chr3:177651620-177652382	A549	lung:	n/a	n/a
6	EP300	chr3:177650294-177653620	SK-N-SH	brain:	n/a	chr3:177650794-177650808 chr3:177650435-177650449
7	EP300	chr3:177651471-177652588	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr3:177651638-177652476	A549	lung:	n/a	n/a
9	TCF12	chr3:177651514-177652436	SK-N-SH	brain:	n/a	n/a
10	EP300	chr3:177651574-177652406	A549	lung:	n/a	n/a
11	SP1	chr3:177651688-177652440	A549	lung:	n/a	n/a
12	NFIC	chr3:177651488-177652380	SK-N-SH	brain:	n/a	n/a
13	RAD21	chr3:177651865-177652160	SK-N-SH_RA	brain:	n/a	n/a
14	GATA3	chr3:177651472-177652473	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr3:177651456-177652513	SK-N-SH	brain:	n/a	n/a
16	SP1	chr3:177651717-177652363	A549	lung:	n/a	n/a
17	GATA3	chr3:177651546-177652417	A549	lung:	n/a	n/a
18	TEAD4	chr3:177651576-177652415	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr3:177650425-177653435	SK-N-SH	brain:	n/a	n/a
20	CEBPB	chr3:177651823-177652419	A549	lung:	n/a	chr3:177652133-177652144
21	GATA3	chr3:177651861-177652193	SH-SY5Y	brain:	n/a	n/a
22	EP300	chr3:177651764-177652613	SK-N-SH_RA	brain:	n/a	n/a
23	NR3C1	chr3:177651901-177652262	A549	lung:	n/a	n/a
24	ATF1	chr3:177651885-177652184	K562	blood:	n/a	n/a
25	PBX3	chr3:177651593-177652590	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr3:177651972-177652238	HepG2	liver:	n/a	n/a
27	CEBPB	chr3:177651673-177652280	IMR90	lung:	n/a	chr3:177652133-177652144
28	NFYB	chr3:177651709-177652048	GM12878	blood:	n/a	n/a
29	EP300	chr3:177651849-177652481	SK-N-SH_RA	brain:	n/a	n/a
30	CEBPB	chr3:177652009-177652209	HepG2	liver:	n/a	chr3:177652133-177652144

Variant related genes	Relation type
ENSG00000225790	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12489750	0.83[ASN][1000 genomes]
rs12492069	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12492409	0.83[ASN][1000 genomes]
rs12497387	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13062823	0.83[ASN][1000 genomes]
rs13075342	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1421163	0.88[EUR][1000 genomes]
rs1421164	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1421169	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1582399	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16828811	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16828819	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1861886	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34534264	0.83[ASN][1000 genomes]
rs34603970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34969108	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35494413	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35569214	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3978728	0.82[ASN][1000 genomes]
rs7619802	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[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	nsv931055	chr3:177229521-177889872	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177648000-177652400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:177648000-177652400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr3:177648200-177655000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:177648400-177652800	Enhancers	Osteobl	bone
5	chr3:177648400-177653000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:177648600-177652400	Enhancers	Brain Germinal Matrix	brain
7	chr3:177648600-177652600	Enhancers	HSMM	muscle
8	chr3:177648600-177652600	Enhancers	NHDF-Ad	bronchial
9	chr3:177648800-177652600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:177649000-177652200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:177649200-177652600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:177649200-177657000	Weak transcription	Esophagus	oesophagus
13	chr3:177649600-177652400	Enhancers	HUVEC	blood vessel
14	chr3:177649800-177652400	Enhancers	NH-A	brain
15	chr3:177649800-177654200	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:177650000-177652200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:177650000-177652600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:177650200-177653400	Enhancers	Fetal Lung	lung
19	chr3:177650400-177653000	Weak transcription	Spleen	Spleen
20	chr3:177650800-177652200	Enhancers	Fetal Brain Male	brain
21	chr3:177651200-177652600	Enhancers	HSMMtube	muscle
22	chr3:177651200-177652600	Enhancers	NHLF	lung
23	chr3:177651200-177653200	Enhancers	Fetal Kidney	kidney
24	chr3:177651200-177653400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:177651200-177653400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:177651200-177654800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:177651400-177652200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:177651600-177652200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:177651800-177653000	Enhancers	Liver	Liver
30	chr3:177651800-177653200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:177651800-177653200	Enhancers	Adipose Nuclei	Adipose
32	chr3:177651800-177653200	Enhancers	Fetal Heart	heart
33	chr3:177651800-177653200	Enhancers	Fetal Muscle Leg	muscle
34	chr3:177651800-177653200	Enhancers	Placenta	Placenta
35	chr3:177651800-177653400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:177651800-177653600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr3:177651800-177653600	Enhancers	HepG2	liver
38	chr3:177652000-177652400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr3:177652000-177652400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:177652000-177652400	Flanking Active TSS	A549	lung
41	chr3:177652000-177652800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:177652000-177653000	Enhancers	Pancreas	Pancrea
43	chr3:177652000-177653200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:177652000-177653200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:177652000-177653200	Enhancers	Left Ventricle	heart
46	chr3:177652000-177653200	Enhancers	Psoas Muscle	Psoas
47	chr3:177652000-177653200	Enhancers	Right Atrium	heart
48	chr3:177652000-177653400	Enhancers	Skeletal Muscle Female	skeletal muscle

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