Variant report

Variant	rs58012510
Chromosome Location	chr1:224821753-224821754
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	chr1:224821183..224823060-chr1:224827666..224830231,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12124222	0.92[ASN][1000 genomes]
rs12131256	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6672460	0.92[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:36 , 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	chr1:224816200-224822600	Enhancers	Fetal Brain Female	brain
6	chr1:224818400-224829400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:224818800-224822600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:224819000-224823400	Enhancers	NHDF-Ad	bronchial
9	chr1:224819400-224824200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:224819800-224822600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:224820000-224824200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:224820200-224822400	Weak transcription	Gastric	stomach
13	chr1:224820200-224823200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:224820400-224821800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
16	chr1:224820600-224825200	Weak transcription	Fetal Lung	lung
17	chr1:224820800-224822600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:224820800-224822800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:224820800-224822800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:224820800-224823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:224820800-224823400	Weak transcription	HSMM	muscle
22	chr1:224820800-224824200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:224820800-224824400	Weak transcription	Dnd41	blood
24	chr1:224820800-224825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:224820800-224827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:224821000-224822400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:224821000-224822400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:224821000-224822600	Weak transcription	NHLF	lung
29	chr1:224821000-224823800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:224821000-224824800	Weak transcription	HSMMtube	muscle
31	chr1:224821200-224822800	Weak transcription	Pancreas	Pancrea
32	chr1:224821200-224822800	Weak transcription	Osteobl	bone
33	chr1:224821400-224823000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:224821400-224823000	Weak transcription	Ovary	ovary
35	chr1:224821400-224823000	Enhancers	NH-A	brain
36	chr1:224821600-224822600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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