Variant report

Variant	rs16865917
Chromosome Location	chr2:7218285-7218286
allele	C/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	JUN	chr2:7217883-7218365	HUVEC	blood vessel:	n/a	chr2:7218230-7218242
2	FOS	chr2:7218072-7218304	MCF10A-Er-Src	breast:	n/a	chr2:7218230-7218242
3	FOS	chr2:7218059-7218329	MCF10A-Er-Src	breast:	n/a	chr2:7218230-7218242
4	FOS	chr2:7218058-7218336	MCF10A-Er-Src	breast:	n/a	chr2:7218230-7218242
5	CEBPB	chr2:7218117-7218581	HepG2	liver:	n/a	n/a
6	FOS	chr2:7218041-7218319	MCF10A-Er-Src	breast:	n/a	chr2:7218230-7218242
7	POLR2A	chr2:7218047-7218305	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000223884	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs16865916	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16865920	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865922	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865923	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16865924	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs16865927	0.81[ASN][1000 genomes]
rs16865931	0.86[EUR][1000 genomes]
rs16865932	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17669966	0.80[EUR][1000 genomes]
rs4484010	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4522579	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4610023	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4635504	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55910201	0.82[EUR][1000 genomes]
rs56115537	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56129949	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56168684	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56242290	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57541858	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58036970	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61329746	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61522366	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62105864	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62105867	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62105868	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62107982	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107983	0.82[EUR][1000 genomes]
rs6718054	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6723966	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6729284	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6729685	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6732547	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6732551	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6738592	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6738821	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6742329	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6742546	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6746186	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67483739	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759972	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6760279	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73149306	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs73149321	0.95[ASN][1000 genomes]
rs7601791	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7607248	0.85[EUR][1000 genomes];0.85[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	nsv469394	chr2:7197199-7230988	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv580914	chr2:7197199-7230988	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7194200-7234000	Weak transcription	Pancreas	Pancrea
2	chr2:7204400-7218600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:7209400-7218600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:7211800-7224000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:7213400-7218800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:7214200-7230000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:7214400-7234000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:7214800-7218600	Strong transcription	Primary T cells from cord blood	blood
9	chr2:7216000-7218600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:7217000-7218800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:7217200-7223200	Weak transcription	Dnd41	blood
12	chr2:7217600-7218400	Enhancers	Adipose Nuclei	Adipose
13	chr2:7217600-7218400	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:7217600-7218800	Enhancers	HUVEC	blood vessel
15	chr2:7217800-7218400	Enhancers	Right Atrium	heart

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