Variant report

Variant	rs12092532
Chromosome Location	chr1:224824237-224824238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1036431	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1039265	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10495227	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10915691	0.89[EUR][1000 genomes]
rs10915693	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10915695	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11805320	0.93[AMR][1000 genomes]
rs12058085	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12060334	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12062831	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12065840	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12068125	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12072810	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12073052	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12077707	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12079156	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12088524	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12562581	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12565092	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12567125	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1337538	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1465766	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1465767	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1532557	0.84[EUR][1000 genomes]
rs16850786	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1985338	0.83[EUR][1000 genomes]
rs4363402	0.90[EUR][1000 genomes]
rs61603030	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61827076	0.83[EUR][1000 genomes]
rs61827113	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827152	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6426147	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6695864	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7541279	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7554310	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs883116	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3369571	chr1:224824067-224824245	Weak transcription Genic enhancers Enhancers	n/a	n/a	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	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
5	chr1:224820600-224825200	Weak transcription	Fetal Lung	lung
6	chr1:224820800-224824400	Weak transcription	Dnd41	blood
7	chr1:224820800-224825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:224820800-224827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:224821000-224824800	Weak transcription	HSMMtube	muscle
10	chr1:224822600-224825000	Weak transcription	Fetal Brain Female	brain
11	chr1:224822800-224825000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:224823200-224824600	Weak transcription	Fetal Brain Male	brain
13	chr1:224823400-224824400	Genic enhancers	NHDF-Ad	bronchial
14	chr1:224823400-224825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:224823400-224827000	Enhancers	HSMM	muscle
16	chr1:224823400-224827200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:224823600-224825200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:224823600-224825200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:224823600-224825200	Weak transcription	Pancreas	Pancrea
20	chr1:224823600-224825400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:224823800-224824400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:224823800-224824400	Genic enhancers	NH-A	brain
23	chr1:224823800-224825000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:224823800-224825000	Weak transcription	Osteobl	bone
25	chr1:224823800-224825200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:224823800-224825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:224824000-224825200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:224824000-224825400	Weak transcription	Gastric	stomach
29	chr1:224824000-224825400	Weak transcription	NHLF	lung
30	chr1:224824200-224824400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:224824200-224824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:224824200-224825000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:224824200-224825200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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