Variant report

Variant	rs2516230
Chromosome Location	chr6:12600754-12600755
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12291147..12293280-chr6:12600052..12602342,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10046276	1.00[EUR][1000 genomes]
rs11750980	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11966877	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12332919	1.00[EUR][1000 genomes]
rs1334306	1.00[EUR][1000 genomes]
rs1334307	1.00[EUR][1000 genomes]
rs2490446	1.00[EUR][1000 genomes]
rs2490448	1.00[EUR][1000 genomes]
rs2490450	1.00[EUR][1000 genomes]
rs2490451	1.00[EUR][1000 genomes]
rs2504866	1.00[EUR][1000 genomes]
rs2504889	1.00[EUR][1000 genomes]
rs2504893	1.00[EUR][1000 genomes]
rs2504896	1.00[EUR][1000 genomes]
rs2516229	1.00[EUR][1000 genomes]
rs2516236	1.00[EUR][1000 genomes]
rs2516237	1.00[EUR][1000 genomes]
rs57317303	1.00[EUR][1000 genomes]
rs59901827	1.00[EUR][1000 genomes]
rs60493852	1.00[EUR][1000 genomes]
rs60501074	1.00[EUR][1000 genomes]
rs6458322	1.00[EUR][1000 genomes]
rs6900340	1.00[EUR][1000 genomes]
rs6916851	1.00[EUR][1000 genomes]
rs6928058	1.00[EUR][1000 genomes]
rs6933484	1.00[EUR][1000 genomes]
rs73356106	1.00[EUR][1000 genomes]
rs73356116	1.00[EUR][1000 genomes]
rs73356122	1.00[EUR][1000 genomes]
rs73356124	1.00[EUR][1000 genomes]
rs73722796	1.00[EUR][1000 genomes]
rs7738584	1.00[EUR][1000 genomes]
rs9462819	1.00[EUR][1000 genomes]
rs9462825	1.00[EUR][1000 genomes]
rs9462830	1.00[EUR][1000 genomes]
rs9462834	1.00[EUR][1000 genomes]
rs9471867	1.00[EUR][1000 genomes]
rs9471922	1.00[EUR][1000 genomes]
rs9471924	1.00[EUR][1000 genomes]
rs9472012	1.00[EUR][1000 genomes]
rs9472013	1.00[EUR][1000 genomes]
rs9472037	1.00[EUR][1000 genomes]
rs9472109	1.00[EUR][1000 genomes]
rs9472110	1.00[EUR][1000 genomes]
rs9472123	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9472198	1.00[EUR][1000 genomes]
rs9717503	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470801	chr6:12559239-12666093	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv462638	chr6:12569231-12651249	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv600991	chr6:12569231-12651249	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr6:12594200-12600800	Weak transcription	Aorta	Aorta
2	chr6:12595000-12601000	Weak transcription	Gastric	stomach
3	chr6:12595400-12601000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:12595800-12600800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:12595800-12601000	Weak transcription	HUVEC	blood vessel
6	chr6:12595800-12601000	Weak transcription	NHDF-Ad	bronchial
7	chr6:12595800-12608200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:12596000-12602200	Weak transcription	Fetal Intestine Small	intestine
9	chr6:12596200-12602000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:12596800-12601800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:12596800-12606200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:12597000-12602200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:12600000-12600800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:12600200-12601200	Enhancers	A549	lung
15	chr6:12600600-12601200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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