Variant report

Variant	rs10127552
Chromosome Location	chr1:185820459-185820460
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185816758..185818830-chr1:185820154..185822881,2	MCF-7	breast:
2	chr1:185819007..185822364-chr1:185824027..185827507,3	K562	blood:
3	chr1:185801576..185804195-chr1:185819606..185821997,2	K562	blood:
4	chr1:185818279..185821165-chr1:185821421..185823779,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12239000	1.00[AFR][1000 genomes]
rs28507443	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28571005	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41317459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57642813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57646071	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57647869	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61492840	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675790	1.00[AFR][1000 genomes]
rs6686746	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6689317	1.00[AFR][1000 genomes]
rs6701269	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701921	1.00[AFR][1000 genomes]
rs6703750	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054405	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054410	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054444	0.88[AFR][1000 genomes]
rs73054452	1.00[AFR][1000 genomes]
rs73054473	1.00[AFR][1000 genomes]
rs73058244	1.00[AFR][1000 genomes]
rs73058248	1.00[AFR][1000 genomes]
rs73058365	0.80[AFR][1000 genomes]
rs73058381	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73058387	1.00[AMR][1000 genomes]
rs73058389	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73058395	1.00[AMR][1000 genomes]
rs73060472	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73060496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070566	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070580	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070588	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070592	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070595	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072044	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072053	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072054	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072072	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072073	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514923	1.00[AMR][1000 genomes]
rs9727715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv946547	chr1:185818492-185821818	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185803200-185850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185813400-185821600	Weak transcription	Aorta	Aorta
3	chr1:185813400-185839000	Weak transcription	Fetal Lung	lung
4	chr1:185816800-185823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:185817400-185820600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:185817400-185821200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:185817600-185821000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:185817600-185821000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:185817600-185821000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:185818000-185821400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:185819200-185824400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:185819400-185820600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:185819600-185823400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:185819800-185821600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:185819800-185822000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:185819800-185822600	Weak transcription	NHLF	lung
17	chr1:185819800-185826600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:185819800-185826600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:185819800-185829600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:185820000-185822000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:185820000-185822400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:185820000-185822400	Weak transcription	Osteobl	bone
23	chr1:185820000-185822600	Weak transcription	HMEC	breast
24	chr1:185820000-185822600	Weak transcription	NH-A	brain
25	chr1:185820000-185823000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:185820200-185822200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:185820200-185822400	Weak transcription	NHDF-Ad	bronchial
28	chr1:185820200-185822600	Weak transcription	NHEK	skin
29	chr1:185820400-185830200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:185820400-185830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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