Variant report

Variant	rs2062027
Chromosome Location	chr1:86284437-86284438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86283944..86286909-chr1:86290122..86291813,2	MCF-7	breast:
2	chr1:86278102..86279954-chr1:86282044..86284732,2	K562	blood:
3	chr1:86283869..86285851-chr1:86286499..86288640,2	MCF-7	breast:
4	chr1:86263300..86265589-chr1:86281895..86284677,2	K562	blood:
5	chr1:86278454..86281211-chr1:86282044..86284613,2	K562	blood:
6	chr1:86282182..86284490-chr1:86287465..86289002,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11161675	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088397	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55929629	0.86[AFR][1000 genomes]
rs56002647	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57782549	1.00[AMR][1000 genomes]
rs61687099	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097090	0.86[AFR][1000 genomes]
rs74097603	0.86[AFR][1000 genomes]
rs74097604	0.82[AFR][1000 genomes]
rs74097605	0.84[AFR][1000 genomes]
rs74097606	0.86[AFR][1000 genomes]
rs74097607	0.86[AFR][1000 genomes]
rs7535642	1.00[AMR][1000 genomes]
rs9943196	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv999743	chr1:86241246-86364846	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1011293	chr1:86270649-86416972	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86279800-86284600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:86280000-86296600	Weak transcription	GM12878-XiMat	blood
3	chr1:86283400-86285000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:86283400-86285000	Enhancers	Adipose Nuclei	Adipose
5	chr1:86283600-86284600	Enhancers	Osteobl	bone
6	chr1:86283600-86284800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:86283600-86284800	Enhancers	NHDF-Ad	bronchial
8	chr1:86283600-86285000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:86283600-86285000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:86283600-86285200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:86283600-86296400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:86283800-86284800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:86283800-86285000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:86283800-86285200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:86284000-86284800	Enhancers	A549	lung
16	chr1:86284000-86285400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:86284000-86296400	Weak transcription	Fetal Lung	lung
18	chr1:86284200-86284600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:86284200-86296400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:86284200-86296400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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