Variant report

Variant	rs74086472
Chromosome Location	chr14:104325004-104325005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104321542..104325039-chr14:104354434..104358481,6	MCF-7	breast:
2	chr14:104324206..104326944-chr14:104336332..104338348,2	MCF-7	breast:
3	chr14:104284106..104288227-chr14:104321092..104325164,4	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs3212050	1.00[AMR][1000 genomes]
rs3212089	1.00[AMR][1000 genomes]
rs3212107	1.00[AMR][1000 genomes]
rs56074527	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56178734	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57361530	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59026110	1.00[AMR][1000 genomes]
rs59653383	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59851270	1.00[AMR][1000 genomes]
rs60050483	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60707289	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147292	1.00[AMR][1000 genomes]
rs74085290	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086471	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086576	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088712	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8004709	1.00[AMR][1000 genomes]
rs879724	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs909133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	esv1837236	chr14:104313426-104332759	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv566028	chr14:104314023-104332759	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104315200-104327600	Weak transcription	Ovary	ovary
2	chr14:104320000-104325400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:104320200-104325200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:104321800-104325200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:104321800-104325800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:104321800-104326200	Weak transcription	Right Atrium	heart
7	chr14:104322400-104326000	Weak transcription	Adipose Nuclei	Adipose
8	chr14:104322600-104327800	Weak transcription	Fetal Heart	heart
9	chr14:104322800-104327800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:104322800-104327800	Weak transcription	Gastric	stomach
11	chr14:104323000-104326000	Weak transcription	Lung	lung
12	chr14:104323400-104326000	Weak transcription	Right Ventricle	heart
13	chr14:104323400-104326000	Weak transcription	HUVEC	blood vessel
14	chr14:104323600-104326000	Weak transcription	Left Ventricle	heart
15	chr14:104323600-104327800	Weak transcription	Pancreas	Pancrea
16	chr14:104323600-104336000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:104323600-104337600	Weak transcription	Fetal Intestine Small	intestine
18	chr14:104324200-104325400	Enhancers	Spleen	Spleen
19	chr14:104324600-104325200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:104324600-104325200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:104324800-104325200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr14:104324800-104326000	Weak transcription	HepG2	liver
23	chr14:104325000-104325200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:104325000-104326000	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:104325000-104326000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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