Variant report

Variant	rs60228269
Chromosome Location	chr1:224825095-224825096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56879180	0.80[ASN][1000 genomes]
rs57247814	0.80[ASN][1000 genomes]
rs58011163	0.80[ASN][1000 genomes]
rs58632343	0.80[ASN][1000 genomes]
rs60017318	0.80[ASN][1000 genomes]
rs60936981	0.80[ASN][1000 genomes]
rs61631299	0.80[ASN][1000 genomes]
rs74146218	0.80[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:34 , 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	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
5	chr1:224820600-224825200	Weak transcription	Fetal Lung	lung
6	chr1:224820800-224825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:224820800-224827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:224823400-224827000	Enhancers	HSMM	muscle
9	chr1:224823400-224827200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:224823600-224825200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:224823600-224825200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:224823600-224825200	Weak transcription	Pancreas	Pancrea
13	chr1:224823600-224825400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:224823800-224825200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:224823800-224825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:224824000-224825200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:224824000-224825400	Weak transcription	Gastric	stomach
18	chr1:224824000-224825400	Weak transcription	NHLF	lung
19	chr1:224824200-224825200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:224824400-224825200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:224824400-224825600	Weak transcription	NHDF-Ad	bronchial
22	chr1:224824400-224826400	Enhancers	Dnd41	blood
23	chr1:224824400-224827800	Enhancers	NH-A	brain
24	chr1:224824600-224826400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:224824600-224826400	Enhancers	Fetal Brain Male	brain
26	chr1:224824800-224825800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:224824800-224826600	Enhancers	HSMMtube	muscle
28	chr1:224825000-224825400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr1:224825000-224825400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:224825000-224825600	Enhancers	Fetal Brain Female	brain
31	chr1:224825000-224826000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:224825000-224826000	Enhancers	Fetal Muscle Leg	muscle
33	chr1:224825000-224826000	Enhancers	Osteobl	bone
34	chr1:224825000-224826400	Enhancers	Thymus	Thymus

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