Variant report

Variant	rs9448049
Chromosome Location	chr6:77977527-77977528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12181240	1.00[EUR][1000 genomes]
rs12333076	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1419080	1.00[EUR][1000 genomes]
rs1419081	1.00[EUR][1000 genomes]
rs1557159	1.00[EUR][1000 genomes]
rs1777799	1.00[EUR][1000 genomes]
rs1777801	1.00[EUR][1000 genomes]
rs1974363	1.00[EUR][1000 genomes]
rs2153889	1.00[EUR][1000 genomes]
rs2746588	1.00[EUR][1000 genomes]
rs2746589	1.00[EUR][1000 genomes]
rs3934417	1.00[EUR][1000 genomes]
rs6453975	1.00[EUR][1000 genomes]
rs6453976	1.00[EUR][1000 genomes]
rs6904677	1.00[EUR][1000 genomes]
rs9341662	1.00[EUR][1000 genomes]
rs9352475	1.00[EUR][1000 genomes]
rs9443392	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9443394	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9443410	1.00[EUR][1000 genomes]
rs9443415	1.00[EUR][1000 genomes]
rs9447997	1.00[EUR][1000 genomes]
rs9447998	1.00[EUR][1000 genomes]
rs9447999	1.00[EUR][1000 genomes]
rs9448003	1.00[EUR][1000 genomes]
rs9448058	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9448059	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9448063	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9448065	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9448066	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9448068	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9448069	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9448075	1.00[EUR][1000 genomes]
rs9448090	1.00[EUR][1000 genomes]
rs9448091	1.00[EUR][1000 genomes]
rs947732	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534282	chr6:77764575-78351994	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034979	chr6:77781244-78426249	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538324	chr6:77781244-78426249	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2753543	chr6:77791848-78059351	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1015307	chr6:77902559-78352291	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77969800-77982400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:77970600-77984400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:77971600-77983600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:77973600-77984200	Weak transcription	Ovary	ovary
5	chr6:77974800-77978200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:77975000-77980400	Weak transcription	Pancreas	Pancrea
7	chr6:77975200-77983000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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