Variant report

Variant	rs753641
Chromosome Location	chr5:119741744-119741745
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	STAT3	chr5:119740986-119741893	MCF10A-Er-Src	breast:	n/a	chr5:119741166-119741175 chr5:119741165-119741174
2	FOSL2	chr5:119740963-119741967	SK-N-SH	brain:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176
3	MEF2A	chr5:119740961-119742071	SK-N-SH	brain:	n/a	chr5:119741200-119741221 chr5:119741204-119741219 chr5:119741204-119741220 chr5:119741206-119741217
4	PBX3	chr5:119741591-119742012	SK-N-SH	brain:	n/a	n/a
5	FOSL1	chr5:119741583-119742040	HCT-116	colon:	n/a	n/a
6	FOS	chr5:119740980-119741873	MCF10A-Er-Src	breast:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176 chr5:119741164-119741175
7	GATA2	chr5:119741084-119742159	HUVEC	blood vessel:	n/a	n/a
8	MYC	chr5:119741697-119741754	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr5:119740931-119741848	MCF10A-Er-Src	breast:	n/a	chr5:119741166-119741175 chr5:119741165-119741174
10	CEBPB	chr5:119740974-119741851	IMR90	lung:	n/a	chr5:119741591-119741603
11	KAP1	chr5:119741263-119741961	U2OS	brain:	n/a	n/a
12	TCF12	chr5:119740986-119742117	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr5:119741553-119741938	SK-N-SH	brain:	n/a	n/a
14	STAT3	chr5:119740962-119741893	MCF10A-Er-Src	breast:	n/a	chr5:119741166-119741175 chr5:119741165-119741174
15	JUND	chr5:119740874-119742067	SK-N-SH	brain:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741164-119741175 chr5:119741166-119741174 chr5:119741164-119741176
16	MEF2A	chr5:119741613-119741913	GM12878	blood:	n/a	n/a
17	FOS	chr5:119740955-119742017	HUVEC	blood vessel:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176 chr5:119741164-119741175
18	ARID3A	chr5:119741643-119741799	K562	blood:	n/a	n/a
19	JUND	chr5:119741616-119741948	K562	blood:	n/a	n/a
20	EP300	chr5:119741600-119741918	SK-N-SH_RA	brain:	n/a	n/a
21	POLR2A	chr5:119741679-119741955	Hela-S3	cervix:	n/a	n/a
22	FOS	chr5:119740898-119741967	MCF10A-Er-Src	breast:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176 chr5:119741164-119741175
23	GATA3	chr5:119740919-119742134	SK-N-SH	brain:	n/a	n/a
24	FOS	chr5:119740941-119741935	MCF10A-Er-Src	breast:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176 chr5:119741164-119741175
25	POLR2A	chr5:119741545-119742076	HUVEC	blood vessel:	n/a	n/a
26	FOS	chr5:119740934-119741966	MCF10A-Er-Src	breast:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176 chr5:119741164-119741175
27	POLR2A	chr5:119741567-119741936	U87	brain:	n/a	n/a
28	GATA3	chr5:119741008-119742171	SK-N-SH	brain:	n/a	n/a
29	SETDB1	chr5:119741642-119741991	U2OS	brain:	n/a	n/a
30	EP300	chr5:119740901-119742054	SK-N-SH	brain:	n/a	chr5:119741165-119741174
31	MEF2A	chr5:119740978-119742054	SK-N-SH	brain:	n/a	chr5:119741200-119741221 chr5:119741204-119741219 chr5:119741204-119741220 chr5:119741206-119741217

Variant related genes	Relation type
ENSG00000261036	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10036322	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10052468	0.83[EUR][1000 genomes]
rs10058597	0.82[EUR][1000 genomes]
rs10072828	0.86[EUR][1000 genomes]
rs10447269	0.83[EUR][1000 genomes]
rs10478464	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108712	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12109029	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13158141	0.83[EUR][1000 genomes]
rs13161485	0.83[EUR][1000 genomes]
rs13171950	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13172224	0.81[EUR][1000 genomes]
rs13357775	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13359009	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1347070	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368182	0.82[EUR][1000 genomes]
rs1368189	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394115	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432456	0.83[EUR][1000 genomes]
rs1432457	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1432461	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1432464	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1835870	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082353	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082356	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116606	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2897244	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35399227	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895246	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4895247	0.83[EUR][1000 genomes]
rs4895248	0.83[EUR][1000 genomes]
rs4895249	0.86[EUR][1000 genomes]
rs4895250	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4895253	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58274987	0.81[EUR][1000 genomes]
rs59264625	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59336675	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595232	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865215	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878266	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895493	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896794	0.82[EUR][1000 genomes]
rs6899092	0.81[EUR][1000 genomes]
rs7446731	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701804	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709140	1.00[ASN][1000 genomes]
rs7713691	0.83[EUR][1000 genomes]
rs7714965	0.81[EUR][1000 genomes]
rs7718509	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7722765	1.00[ASN][1000 genomes]
rs7727978	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327141	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9327142	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs982827	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020655	chr5:119729801-119781762	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119735800-119744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:119739800-119743400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:119740200-119741800	Enhancers	NHLF	lung
4	chr5:119740200-119742000	Enhancers	HUVEC	blood vessel
5	chr5:119740200-119742200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:119740200-119742800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:119740400-119742200	Enhancers	HMEC	breast
8	chr5:119740400-119742200	Enhancers	HSMM	muscle
9	chr5:119740400-119742200	Enhancers	NHDF-Ad	bronchial
10	chr5:119740400-119742200	Enhancers	Osteobl	bone
11	chr5:119740400-119742400	Enhancers	NH-A	brain
12	chr5:119740600-119741800	Enhancers	Hela-S3	cervix
13	chr5:119740600-119742000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:119740600-119742000	Enhancers	HSMMtube	muscle
15	chr5:119740600-119742200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:119741200-119741800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:119741200-119741800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:119741200-119742000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:119741200-119742000	Enhancers	Fetal Heart	heart
20	chr5:119741200-119742200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:119741400-119742000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:119741400-119742600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:119741600-119741800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:119741600-119742000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:119741600-119742400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:119741600-119743200	Active TSS	Skeletal Muscle Female	skeletal muscle

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