Variant report

Variant	rs12565092
Chromosome Location	chr1:224818616-224818617
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	chr1:224806254..224809054-chr1:224817462..224819155,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1036431	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1039265	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10915691	0.81[EUR][1000 genomes]
rs10915693	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10915695	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1106233	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12058085	0.80[EUR][1000 genomes]
rs12060334	0.84[EUR][1000 genomes]
rs12065840	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12072810	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12073052	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12077707	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12079156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12088524	0.85[EUR][1000 genomes]
rs12089565	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12091093	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12092532	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12096245	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12567125	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1337538	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1499289	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1499291	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1499293	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1532557	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16850786	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1985338	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4363402	0.82[EUR][1000 genomes]
rs58725094	0.83[EUR][1000 genomes]
rs60500269	0.83[EUR][1000 genomes]
rs61603030	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61827075	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61827076	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61827113	0.81[AMR][1000 genomes]
rs61827152	0.83[EUR][1000 genomes]
rs6426147	0.83[EUR][1000 genomes]
rs6695864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73115953	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73115958	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7415393	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7541279	0.80[EUR][1000 genomes]
rs7554310	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs883116	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs969025	0.86[AMR][1000 genomes];0.85[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224810400-224819800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:224811000-224819800	Weak transcription	Right Atrium	heart
3	chr1:224812600-224819800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224812800-224825200	Weak transcription	HMEC	breast
5	chr1:224812800-224828200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:224813000-224820200	Weak transcription	Dnd41	blood
7	chr1:224814400-224819400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:224814600-224819000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:224814600-224819400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:224814600-224819800	Weak transcription	HSMM	muscle
11	chr1:224814600-224823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:224814800-224819000	Weak transcription	Osteobl	bone
13	chr1:224814800-224819200	Weak transcription	NHLF	lung
14	chr1:224815600-224823200	Enhancers	Fetal Brain Male	brain
15	chr1:224816000-224820200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:224816200-224822600	Enhancers	Fetal Brain Female	brain
17	chr1:224816400-224819200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:224816400-224819400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:224816400-224820400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:224816400-224820400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:224816600-224819200	Weak transcription	Pancreas	Pancrea
22	chr1:224817200-224819000	Genic enhancers	NH-A	brain
23	chr1:224817400-224820000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:224817600-224818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:224817800-224819800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:224817800-224820200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:224818000-224819000	Weak transcription	Fetal Kidney	kidney
28	chr1:224818000-224819000	Weak transcription	Ovary	ovary
29	chr1:224818000-224819400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:224818200-224819000	Genic enhancers	NHDF-Ad	bronchial
31	chr1:224818400-224819400	Weak transcription	Brain Germinal Matrix	brain
32	chr1:224818400-224829400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:224818600-224819800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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