Variant report

Variant	rs12079156
Chromosome Location	chr1:224820922-224820923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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];0.87[ASN][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	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12096245	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12565092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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];0.82[ASN][1000 genomes]
rs16850786	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][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];0.87[ASN][1000 genomes]
rs61827152	0.83[EUR][1000 genomes]
rs6426147	0.83[EUR][1000 genomes]
rs6695864	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[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:41 , 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	chr1:224819000-224821200	Enhancers	Osteobl	bone
9	chr1:224819000-224821400	Enhancers	Ovary	ovary
10	chr1:224819000-224823400	Enhancers	NHDF-Ad	bronchial
11	chr1:224819200-224821000	Enhancers	NHLF	lung
12	chr1:224819200-224821200	Enhancers	Pancreas	Pancrea
13	chr1:224819400-224821400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:224819400-224824200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:224819600-224821000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:224819800-224821000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr1:224819800-224821400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:224819800-224821600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:224819800-224822600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:224820000-224821000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:224820000-224824200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:224820200-224821400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:224820200-224822400	Weak transcription	Gastric	stomach
24	chr1:224820200-224823200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:224820400-224821000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:224820400-224821000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:224820400-224821200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:224820400-224821800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
30	chr1:224820600-224821000	Enhancers	HSMMtube	muscle
31	chr1:224820600-224825200	Weak transcription	Fetal Lung	lung
32	chr1:224820800-224821200	Enhancers	NH-A	brain
33	chr1:224820800-224822600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:224820800-224822800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:224820800-224822800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:224820800-224823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:224820800-224823400	Weak transcription	HSMM	muscle
38	chr1:224820800-224824200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:224820800-224824400	Weak transcription	Dnd41	blood
40	chr1:224820800-224825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:224820800-224827600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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