Variant report

Variant	rs10137994
Chromosome Location	chr14:64763513-64763514
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	chr14:64763350-64763652	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr14:64763309-64763702	HUVEC	blood vessel:	n/a	chr14:64763527-64763537
3	NR3C1	chr14:64763321-64763538	ECC-1	luminal epithelium:	n/a	chr14:64763454-64763468 chr14:64763454-64763468 chr14:64763448-64763474 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763450-64763471 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763453-64763469 chr14:64763454-64763468
4	FOS	chr14:64763233-64763797	HUVEC	blood vessel:	n/a	chr14:64763574-64763582 chr14:64763575-64763586 chr14:64763572-64763584 chr14:64763567-64763579 chr14:64763572-64763583
5	BATF	chr14:64763391-64763672	GM12878	blood:	n/a	n/a
6	NR3C1	chr14:64763308-64763556	ECC-1	luminal epithelium:	n/a	chr14:64763454-64763468 chr14:64763454-64763468 chr14:64763448-64763474 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763450-64763471 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763453-64763469 chr14:64763454-64763468
7	FOS	chr14:64763436-64763728	MCF10A-Er-Src	breast:	n/a	chr14:64763574-64763582 chr14:64763575-64763586 chr14:64763572-64763584 chr14:64763567-64763579 chr14:64763572-64763583
8	POLR2A	chr14:64763283-64763640	HUVEC	blood vessel:	n/a	n/a
9	PBX3	chr14:64763502-64763671	GM12878	blood:	n/a	chr14:64763584-64763593
10	PBX3	chr14:64763308-64763696	SK-N-SH	brain:	n/a	chr14:64763318-64763329 chr14:64763584-64763593
11	CTCF	chr14:64763400-64763550	GM12865	blood:	n/a	n/a
12	FOS	chr14:64763393-64763738	MCF10A-Er-Src	breast:	n/a	chr14:64763574-64763582 chr14:64763575-64763586 chr14:64763572-64763584 chr14:64763567-64763579 chr14:64763572-64763583
13	NR3C1	chr14:64763243-64763658	A549	lung:	n/a	chr14:64763454-64763468 chr14:64763454-64763468 chr14:64763448-64763474 chr14:64763448-64763474 chr14:64763573-64763582 chr14:64763453-64763469 chr14:64763450-64763471 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763574-64763583 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763453-64763469 chr14:64763454-64763468
14	JUN	chr14:64763333-64763794	HUVEC	blood vessel:	n/a	chr14:64763574-64763582 chr14:64763575-64763586 chr14:64763572-64763584 chr14:64763567-64763579
15	BATF	chr14:64763398-64763710	GM12878	blood:	n/a	n/a
16	NR3C1	chr14:64763228-64763599	A549	lung:	n/a	chr14:64763454-64763468 chr14:64763454-64763468 chr14:64763448-64763474 chr14:64763448-64763474 chr14:64763573-64763582 chr14:64763453-64763469 chr14:64763450-64763471 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763574-64763583 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763453-64763469 chr14:64763454-64763468
17	POLR2A	chr14:64763491-64763518	HUVEC	blood vessel:	n/a	n/a
18	FOS	chr14:64763390-64763738	MCF10A-Er-Src	breast:	n/a	chr14:64763574-64763582 chr14:64763575-64763586 chr14:64763572-64763584 chr14:64763567-64763579 chr14:64763572-64763583
19	NR3C1	chr14:64763187-64763659	A549	lung:	n/a	chr14:64763454-64763468 chr14:64763454-64763468 chr14:64763448-64763474 chr14:64763448-64763474 chr14:64763573-64763582 chr14:64763453-64763469 chr14:64763450-64763471 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763574-64763583 chr14:64763448-64763474 chr14:64763453-64763469 chr14:64763453-64763469 chr14:64763454-64763468
20	PBX3	chr14:64763352-64763752	SK-N-SH	brain:	n/a	chr14:64763584-64763593
21	FOS	chr14:64763402-64763764	MCF10A-Er-Src	breast:	n/a	chr14:64763574-64763582 chr14:64763575-64763586 chr14:64763572-64763584 chr14:64763567-64763579 chr14:64763572-64763583
22	IKZF1	chr14:64763427-64763635	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:64763175-64763811	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64762035..64765050-chr14:64765458..64769653,3	MCF-7	breast:
2	chr14:64611735..64614161-chr14:64762430..64763965,2	MCF-7	breast:
3	chr14:64761182..64763606-chr14:64804460..64806009,2	K562	blood:

Variant related genes	Relation type
ESR2	TF binding region
ENSG00000140009	Chromatin interaction
ENSG00000214770	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10136955	1.00[EUR][1000 genomes]
rs10140457	0.84[EUR][1000 genomes]
rs17101774	1.00[EUR][1000 genomes]
rs28485225	0.92[EUR][1000 genomes]
rs28499370	0.92[EUR][1000 genomes]
rs28663685	1.00[EUR][1000 genomes]
rs3783735	0.85[EUR][1000 genomes]
rs45453691	0.83[AMR][1000 genomes]
rs59216189	0.92[EUR][1000 genomes]
rs73267889	1.00[EUR][1000 genomes]
rs73269927	1.00[EUR][1000 genomes]
rs73269936	1.00[EUR][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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1307	chr14:64742037-64787315	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64761800-64764400	Enhancers	HUVEC	blood vessel
2	chr14:64762000-64764000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr14:64762000-64764000	Weak transcription	Brain Anterior Caudate	brain
4	chr14:64762000-64764400	Enhancers	NHEK	skin
5	chr14:64762600-64763800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:64762600-64764200	Enhancers	HMEC	breast
7	chr14:64762600-64764400	Enhancers	Thymus	Thymus
8	chr14:64762800-64763600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:64762800-64763800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:64763000-64763600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:64763000-64763600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:64763000-64763600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:64763000-64763800	Enhancers	GM12878-XiMat	blood
14	chr14:64763000-64764200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:64763000-64764200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:64763000-64764200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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