Variant report

Variant	rs73054419
Chromosome Location	chr1:185826737-185826738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185819007..185822364-chr1:185824027..185827507,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10127552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
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]
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:2 , 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

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	chr1:185813400-185839000	Weak transcription	Fetal Lung	lung
3	chr1:185819800-185829600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:185820400-185830200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:185820400-185830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:185820600-185831000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:185822400-185827000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:185823200-185831600	Weak transcription	NHLF	lung
9	chr1:185823400-185834200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:185823600-185833600	Weak transcription	HMEC	breast
11	chr1:185823800-185829000	Weak transcription	NH-A	brain
12	chr1:185824400-185829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:185824400-185830200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:185825000-185831000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:185825800-185827000	Enhancers	A549	lung
16	chr1:185826000-185827400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:185826200-185826800	Enhancers	Osteobl	bone
18	chr1:185826400-185826800	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:185826400-185827400	Enhancers	NHDF-Ad	bronchial
20	chr1:185826400-185828200	Enhancers	NHEK	skin
21	chr1:185826600-185826800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:185826600-185827000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:185826600-185827000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:185826600-185827000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:185826600-185827000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:185826600-185827000	Enhancers	Aorta	Aorta
27	chr1:185826600-185827200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:185826600-185828000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:185826600-185828200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:185826600-185829200	Weak transcription	Muscle Satellite Cultured Cells	--

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