Variant report

Variant	rs58632343
Chromosome Location	chr1:224823792-224823793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12239521	0.91[ASN][1000 genomes]
rs16851979	0.91[ASN][1000 genomes]
rs56879180	1.00[ASN][1000 genomes]
rs57247814	1.00[ASN][1000 genomes]
rs58011163	1.00[ASN][1000 genomes]
rs58316565	0.91[ASN][1000 genomes]
rs58793647	0.91[ASN][1000 genomes]
rs58973007	0.91[ASN][1000 genomes]
rs59093574	0.91[ASN][1000 genomes]
rs59151274	0.91[ASN][1000 genomes]
rs60017318	1.00[ASN][1000 genomes]
rs60228269	0.80[ASN][1000 genomes]
rs60936981	1.00[ASN][1000 genomes]
rs61625041	0.91[ASN][1000 genomes]
rs61631299	1.00[ASN][1000 genomes]
rs6426151	0.91[ASN][1000 genomes]
rs6661687	0.91[ASN][1000 genomes]
rs6692860	0.91[ASN][1000 genomes]
rs74146218	1.00[ASN][1000 genomes]
rs7513442	0.91[ASN][1000 genomes]
rs7545558	0.91[ASN][1000 genomes]
rs7555388	0.91[ASN][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:33 , 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	chr1:224818400-224829400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:224819400-224824200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:224820000-224824200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
7	chr1:224820600-224825200	Weak transcription	Fetal Lung	lung
8	chr1:224820800-224824200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:224820800-224824400	Weak transcription	Dnd41	blood
10	chr1:224820800-224825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:224820800-224827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:224821000-224823800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:224821000-224824800	Weak transcription	HSMMtube	muscle
14	chr1:224822600-224823800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:224822600-224824000	Enhancers	NHLF	lung
16	chr1:224822600-224825000	Weak transcription	Fetal Brain Female	brain
17	chr1:224822800-224823800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:224822800-224823800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:224822800-224823800	Enhancers	Osteobl	bone
20	chr1:224822800-224825000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:224823200-224823800	Enhancers	NH-A	brain
22	chr1:224823200-224824000	Enhancers	Gastric	stomach
23	chr1:224823200-224824600	Weak transcription	Fetal Brain Male	brain
24	chr1:224823400-224823800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:224823400-224824000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:224823400-224824400	Genic enhancers	NHDF-Ad	bronchial
27	chr1:224823400-224825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:224823400-224827000	Enhancers	HSMM	muscle
29	chr1:224823400-224827200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:224823600-224825200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:224823600-224825200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:224823600-224825200	Weak transcription	Pancreas	Pancrea
33	chr1:224823600-224825400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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