Variant report

Variant	rs13071785
Chromosome Location	chr3:177398228-177398229
allele	A/T
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	GATA2	chr3:177397276-177398330	HUVEC	blood vessel:	n/a	chr3:177398197-177398207 chr3:177398197-177398206 chr3:177398260-177398269 chr3:177398199-177398206 chr3:177398260-177398269 chr3:177398192-177398213 chr3:177398251-177398268 chr3:177398199-177398206 chr3:177397523-177397534 chr3:177398199-177398206
2	EP300	chr3:177397225-177399260	SK-N-SH	brain:	n/a	chr3:177398807-177398821 chr3:177398406-177398415
3	CEBPB	chr3:177398012-177398353	K562	blood:	n/a	n/a
4	FOSL2	chr3:177398097-177398706	SK-N-SH	brain:	n/a	chr3:177398406-177398415 chr3:177398405-177398414 chr3:177398405-177398415
5	FOS	chr3:177397284-177398592	HUVEC	blood vessel:	n/a	chr3:177397630-177397637 chr3:177398406-177398415 chr3:177397630-177397638 chr3:177398405-177398414 chr3:177397630-177397638 chr3:177398405-177398415
6	TCF12	chr3:177397168-177398627	SK-N-SH	brain:	n/a	n/a
7	CEBPB	chr3:177397873-177398306	Hela-S3	cervix:	n/a	chr3:177398008-177398021
8	IRF1	chr3:177398120-177398279	K562	blood:	n/a	n/a
9	CEBPB	chr3:177397876-177398314	IMR90	lung:	n/a	chr3:177398008-177398021
10	FOS	chr3:177397932-177398580	MCF10A-Er-Src	breast:	n/a	chr3:177398406-177398415 chr3:177398405-177398414 chr3:177398405-177398415
11	RAD21	chr3:177396390-177398716	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr3:177397260-177398554	SK-N-SH	brain:	n/a	chr3:177398197-177398207 chr3:177398197-177398206 chr3:177398260-177398269 chr3:177398199-177398206 chr3:177398260-177398269 chr3:177398192-177398213 chr3:177398251-177398268 chr3:177398199-177398206 chr3:177397523-177397534 chr3:177398199-177398206
13	STAT3	chr3:177398208-177398342	MCF10A-Er-Src	breast:	n/a	chr3:177398228-177398236
14	IRF1	chr3:177398212-177398255	K562	blood:	n/a	n/a
15	GATA3	chr3:177397209-177398697	SK-N-SH	brain:	n/a	chr3:177398197-177398207 chr3:177398197-177398206 chr3:177398260-177398269 chr3:177398199-177398206 chr3:177398260-177398269 chr3:177398192-177398213 chr3:177398251-177398268 chr3:177398199-177398206 chr3:177397523-177397534 chr3:177398199-177398206
16	GATA1	chr3:177397323-177398346	PBDE	blood:	n/a	chr3:177398197-177398207 chr3:177398197-177398206 chr3:177398260-177398269 chr3:177398199-177398206 chr3:177398260-177398269 chr3:177398192-177398213 chr3:177398251-177398268 chr3:177398199-177398206 chr3:177397523-177397534 chr3:177398199-177398206

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:177396417..177398253-chr3:177403984..177405833,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228561	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10513747	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10513749	0.85[ASN][1000 genomes]
rs10513750	0.83[ASN][1000 genomes]
rs10936953	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11915692	0.96[ASN][1000 genomes]
rs12487312	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12487458	0.82[ASN][1000 genomes]
rs12489304	0.83[ASN][1000 genomes]
rs12489969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12496321	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13059514	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13060224	0.82[ASN][1000 genomes]
rs13060502	0.82[ASN][1000 genomes]
rs13064192	0.83[ASN][1000 genomes]
rs13074455	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13082519	0.82[ASN][1000 genomes]
rs13097562	0.84[ASN][1000 genomes]
rs13098037	0.84[ASN][1000 genomes]
rs13340118	0.82[ASN][1000 genomes]
rs13340167	0.82[ASN][1000 genomes]
rs13340172	0.82[ASN][1000 genomes]
rs1499809	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1499811	0.86[ASN][1000 genomes]
rs1500048	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17635512	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17635597	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2062499	0.83[ASN][1000 genomes]
rs2062500	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33964414	0.83[ASN][1000 genomes]
rs34066617	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34347103	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34407557	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34491022	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34557886	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34638059	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34763113	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35110045	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35468531	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35610650	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35652846	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35791913	0.83[ASN][1000 genomes]
rs35830472	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35847814	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35868955	0.83[ASN][1000 genomes]
rs36055300	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56005554	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57405296	0.82[ASN][1000 genomes]
rs61541774	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62283347	0.80[ASN][1000 genomes]
rs66636257	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67189039	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67797381	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6793629	0.82[ASN][1000 genomes]
rs68151580	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71308158	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7610506	0.83[ASN][1000 genomes]
rs7639373	0.83[ASN][1000 genomes]
rs7641099	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752972	chr3:176924298-177425298	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	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
3	nsv4131	chr3:177366549-177399301	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177392000-177405400	Weak transcription	Brain Substantia Nigra	brain
2	chr3:177392200-177404400	Weak transcription	Ovary	ovary
3	chr3:177392400-177418800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:177392600-177398600	Weak transcription	Spleen	Spleen
5	chr3:177392600-177399600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:177394000-177401000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:177394800-177404800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:177395000-177406000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:177395000-177411600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:177395200-177399600	Weak transcription	Stomach Mucosa	stomach
11	chr3:177395200-177400200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:177395400-177399600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:177395400-177400200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:177396000-177398600	Enhancers	Primary hematopoietic stem cells	blood
15	chr3:177396000-177401000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:177396000-177401200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:177396600-177398800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:177396600-177399000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr3:177396600-177400600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:177396800-177398800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr3:177396800-177398800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:177396800-177400800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:177397000-177398600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:177397200-177398800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:177397200-177398800	Enhancers	NH-A	brain
26	chr3:177397200-177399000	Enhancers	Osteobl	bone
27	chr3:177397200-177399200	Enhancers	HMEC	breast
28	chr3:177397200-177399200	Enhancers	K562	blood
29	chr3:177397400-177398600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:177397400-177398800	Enhancers	Fetal Lung	lung
31	chr3:177397400-177399800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:177397600-177398600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:177397600-177398800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:177397600-177398800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:177397600-177398800	Enhancers	NHDF-Ad	bronchial
36	chr3:177397600-177399200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:177397800-177398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:177397800-177398800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:177397800-177398800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:177397800-177398800	Enhancers	NHEK	skin
41	chr3:177397800-177398800	Enhancers	NHLF	lung
42	chr3:177397800-177399200	Enhancers	HSMM	muscle
43	chr3:177397800-177399600	Enhancers	Hela-S3	cervix
44	chr3:177397800-177400200	Weak transcription	Fetal Thymus	thymus
45	chr3:177398000-177398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:177398000-177400200	Weak transcription	Dnd41	blood
47	chr3:177398000-177400400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:177398000-177400800	Weak transcription	Left Ventricle	heart
49	chr3:177398000-177401200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:177398000-177401400	Weak transcription	Adipose Nuclei	Adipose

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