Variant report

Variant	rs62369708
Chromosome Location	chr5:16996728-16996729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16995098..16996958-chr5:17000346..17002199,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs62369703	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62369704	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62369706	0.97[EUR][1000 genomes]
rs62369707	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62369733	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62369734	0.86[EUR][1000 genomes]
rs62369735	0.86[EUR][1000 genomes]
rs62369736	0.86[EUR][1000 genomes]
rs62369740	0.86[EUR][1000 genomes]
rs62369741	0.86[EUR][1000 genomes]
rs62369742	0.86[EUR][1000 genomes]
rs62369743	0.89[EUR][1000 genomes]
rs62369745	0.89[EUR][1000 genomes]
rs62369746	0.86[EUR][1000 genomes]
rs62369758	0.86[EUR][1000 genomes]
rs62369759	0.80[EUR][1000 genomes]
rs62371260	0.86[EUR][1000 genomes]
rs62371264	0.83[EUR][1000 genomes]
rs62371265	0.83[EUR][1000 genomes]
rs6871617	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6878477	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6893707	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7713677	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7718879	0.86[EUR][1000 genomes]
rs7732353	0.86[EUR][1000 genomes]
rs7733116	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795984	chr5:16973769-17078295	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv597311	chr5:16980857-17012775	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1793716	chr5:16989318-17019351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1794754	chr5:16993278-17012775	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1798338	chr5:16993278-17012775	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1802802	chr5:16993278-17012775	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16995000-16998800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:16995200-16999800	Weak transcription	NHLF	lung
3	chr5:16995200-17000400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:16995400-16999800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:16995400-17007200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:16995600-17000600	Weak transcription	HMEC	breast
7	chr5:16995600-17000600	Weak transcription	NHDF-Ad	bronchial
8	chr5:16995800-17000200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:16995800-17000200	Weak transcription	Osteobl	bone
10	chr5:16995800-17000600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:16995800-17000800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:16995800-17000800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:16995800-17000800	Weak transcription	HSMM	muscle
14	chr5:16996000-16997400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:16996000-16998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:16996000-16999600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:16996000-16999600	Weak transcription	A549	lung
18	chr5:16996000-16999800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:16996000-17000000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:16996000-17000200	Weak transcription	HSMMtube	muscle
21	chr5:16996000-17000400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:16996000-17000600	Weak transcription	NH-A	brain
23	chr5:16996600-17000000	Weak transcription	HUVEC	blood vessel

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