Variant report

Variant	rs58158731
Chromosome Location	chr1:224822873-224822874
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224821183..224823060-chr1:224827666..224830231,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10495223	0.87[EUR][1000 genomes]
rs10495224	0.87[EUR][1000 genomes]
rs10915689	0.88[EUR][1000 genomes]
rs12118224	0.93[EUR][1000 genomes]
rs12123347	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12133496	0.89[EUR][1000 genomes]
rs12133529	0.89[EUR][1000 genomes]
rs12134264	0.89[EUR][1000 genomes]
rs12135077	0.91[EUR][1000 genomes]
rs12144488	0.89[EUR][1000 genomes]
rs12145463	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16851528	0.89[EUR][1000 genomes]
rs3738364	0.92[EUR][1000 genomes]
rs6426145	0.89[EUR][1000 genomes]
rs6426146	0.89[EUR][1000 genomes]
rs6666840	0.88[EUR][1000 genomes]
rs6666853	0.88[EUR][1000 genomes]
rs6666929	0.88[EUR][1000 genomes]
rs6676362	0.88[EUR][1000 genomes]
rs6676444	0.88[EUR][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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224812800-224825200	Weak transcription	HMEC	breast
2	chr1:224812800-224828200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:224814600-224823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:224815600-224823200	Enhancers	Fetal Brain Male	brain
5	chr1:224818400-224829400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:224819000-224823400	Enhancers	NHDF-Ad	bronchial
7	chr1:224819400-224824200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:224820000-224824200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:224820200-224823200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
11	chr1:224820600-224825200	Weak transcription	Fetal Lung	lung
12	chr1:224820800-224823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:224820800-224823400	Weak transcription	HSMM	muscle
14	chr1:224820800-224824200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:224820800-224824400	Weak transcription	Dnd41	blood
16	chr1:224820800-224825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:224820800-224827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:224821000-224823800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:224821000-224824800	Weak transcription	HSMMtube	muscle
20	chr1:224821400-224823000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:224821400-224823000	Weak transcription	Ovary	ovary
22	chr1:224821400-224823000	Enhancers	NH-A	brain
23	chr1:224821800-224823200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:224822600-224823200	Weak transcription	Gastric	stomach
25	chr1:224822600-224823400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:224822600-224823400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:224822600-224823800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:224822600-224824000	Enhancers	NHLF	lung
29	chr1:224822600-224825000	Weak transcription	Fetal Brain Female	brain
30	chr1:224822800-224823400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:224822800-224823600	Enhancers	Pancreas	Pancrea
32	chr1:224822800-224823800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:224822800-224823800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:224822800-224823800	Enhancers	Osteobl	bone
35	chr1:224822800-224825000	Enhancers	Muscle Satellite Cultured Cells	--

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