Variant report

Variant	rs74133692
Chromosome Location	chr1:185824211-185824212
allele	A/G
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: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11799934	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811968	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55980493	1.00[AMR][1000 genomes]
rs59367979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134380	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134387	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:27 , 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	chr1:185819200-185824400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:185819800-185826600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:185819800-185826600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:185819800-185829600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:185820400-185830200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:185820400-185830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:185820600-185831000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:185821000-185826600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:185821600-185824400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:185821800-185826600	Weak transcription	Aorta	Aorta
13	chr1:185822200-185824400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:185822400-185827000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:185823200-185831600	Weak transcription	NHLF	lung
16	chr1:185823400-185824400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:185823400-185834200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:185823600-185825800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:185823600-185825800	Weak transcription	A549	lung
20	chr1:185823600-185826400	Weak transcription	NHEK	skin
21	chr1:185823600-185833600	Weak transcription	HMEC	breast
22	chr1:185823800-185825000	Weak transcription	NHDF-Ad	bronchial
23	chr1:185823800-185825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:185823800-185826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:185823800-185829000	Weak transcription	NH-A	brain
26	chr1:185824000-185824400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:185824200-185825000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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