Variant report

Variant	rs12594724
Chromosome Location	chr15:42999650-42999651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs12323990	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12324135	0.87[EUR][1000 genomes]
rs12591415	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12592374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592573	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594325	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12594378	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12594600	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594696	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594699	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12594725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594765	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594837	0.98[ASN][1000 genomes]
rs12595722	0.83[ASN][1000 genomes]
rs16957031	0.85[AFR][1000 genomes]
rs16957037	0.86[AFR][1000 genomes]
rs16957043	0.87[EUR][1000 genomes]
rs16957055	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16957061	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16957063	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957120	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915242	0.87[EUR][1000 genomes]
rs1915243	0.87[EUR][1000 genomes]
rs28431056	1.00[ASN][1000 genomes]
rs28437884	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28542286	0.92[AFR][1000 genomes]
rs28661826	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28680600	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28699522	0.87[EUR][1000 genomes]
rs28736688	1.00[EUR][1000 genomes]
rs3742992	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742995	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4334272	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56046122	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56839966	0.87[EUR][1000 genomes]
rs58237318	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58548142	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60723187	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61747153	0.98[ASN][1000 genomes]
rs6493065	0.83[AFR][1000 genomes]
rs7169231	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169238	0.85[ASN][1000 genomes]
rs7178483	1.00[EUR][1000 genomes]
rs73408611	0.87[EUR][1000 genomes]
rs73408619	1.00[EUR][1000 genomes]
rs73410923	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73410927	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410937	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410940	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410959	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410961	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410969	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410971	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410972	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410973	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410981	0.87[EUR][1000 genomes]
rs8023743	1.00[EUR][1000 genomes]
rs8028365	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8028699	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8033336	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036733	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8043143	1.00[EUR][1000 genomes]
rs9920935	0.82[AFR][1000 genomes]
rs9944270	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv517553	chr15:42970899-43023482	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv2763096	chr15:42989603-43009399	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
2	chr15:42975600-43011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:42976600-43015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:42977000-43011600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:42977000-43016600	Weak transcription	Hela-S3	cervix
6	chr15:42978200-43010400	Weak transcription	Thymus	Thymus
7	chr15:42978800-43012000	Weak transcription	NH-A	brain
8	chr15:42979200-43011000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:42979600-43010000	Weak transcription	GM12878-XiMat	blood
10	chr15:42979800-43010600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:42980200-43002800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:42980400-43010400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:42981400-43015000	Weak transcription	HSMM	muscle
14	chr15:42981600-43009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:42981600-43011000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:42981800-43010000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:42984000-43014800	Weak transcription	K562	blood
18	chr15:42986000-43018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:42987200-43010000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:42987800-43008800	Weak transcription	Aorta	Aorta
21	chr15:42987800-43016400	Weak transcription	Esophagus	oesophagus
22	chr15:42988000-43010200	Weak transcription	Colonic Mucosa	Colon
23	chr15:42988200-43010200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr15:42988400-43001400	Weak transcription	Lung	lung
25	chr15:42988400-43008200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:42988400-43008600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:42988400-43009600	Weak transcription	Fetal Intestine Small	intestine
28	chr15:42988400-43010600	Weak transcription	NHLF	lung
29	chr15:42988600-43008400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:42989000-43008800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:42989000-43009000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:42989000-43010000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:42989000-43010400	Weak transcription	Placenta	Placenta
34	chr15:42989000-43011800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:42989200-43009600	Weak transcription	Left Ventricle	heart
36	chr15:42989200-43010200	Weak transcription	Brain Angular Gyrus	brain
37	chr15:42989200-43010200	Weak transcription	Ovary	ovary
38	chr15:42989800-43009000	Weak transcription	Right Ventricle	heart
39	chr15:42990000-43009000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:42991000-43008600	Weak transcription	NHDF-Ad	bronchial
41	chr15:42992400-43008600	Weak transcription	Fetal Brain Female	brain
42	chr15:42993400-43002800	Weak transcription	Fetal Heart	heart
43	chr15:42993400-43008400	Weak transcription	Brain Substantia Nigra	brain
44	chr15:42993400-43008800	Weak transcription	Primary B cells from cord blood	blood
45	chr15:42993400-43008800	Weak transcription	Brain Germinal Matrix	brain
46	chr15:42993400-43009000	Weak transcription	Brain Hippocampus Middle	brain
47	chr15:42993400-43010200	Weak transcription	Primary T cells from cord blood	blood
48	chr15:42993400-43010800	Weak transcription	Fetal Lung	lung
49	chr15:42993400-43015400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:42993600-43008800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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