Variant report

Variant	rs12594689
Chromosome Location	chr15:58214382-58214383
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	chr15:58213469..58215325-chr15:58403221..58404811,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10518951	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1078777	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1125360	0.85[EUR][1000 genomes]
rs11857127	1.00[ASN][1000 genomes]
rs12591551	0.82[EUR][1000 genomes]
rs12591715	0.81[EUR][1000 genomes]
rs12591835	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12592533	0.86[EUR][1000 genomes]
rs12592773	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12592810	0.85[EUR][1000 genomes]
rs12593050	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12593414	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12595264	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1372367	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1550575	0.95[ASN][1000 genomes]
rs1550576	0.95[ASN][1000 genomes]
rs16953355	0.92[EUR][1000 genomes]
rs16977845	0.81[ASN][1000 genomes]
rs16977858	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16977861	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16977865	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16977883	0.82[EUR][1000 genomes]
rs1837850	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34165083	0.81[EUR][1000 genomes]
rs35016264	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35056852	0.89[EUR][1000 genomes]
rs35385267	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35912910	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3825778	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4646561	0.85[EUR][1000 genomes]
rs4646574	0.85[EUR][1000 genomes]
rs4646583	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4646587	0.82[EUR][1000 genomes]
rs4646591	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4646601	0.91[EUR][1000 genomes]
rs4646608	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4646618	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4646632	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4646637	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4646644	0.88[AMR][1000 genomes]
rs55723752	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55757800	0.88[EUR][1000 genomes]
rs55866609	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56066922	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56141372	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56183601	0.91[EUR][1000 genomes]
rs56280454	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56404147	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7161823	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7178015	0.87[EUR][1000 genomes]
rs72735457	0.86[ASN][1000 genomes]
rs74017072	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74017096	0.82[EUR][1000 genomes]
rs7495284	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8041300	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833023	chr15:58161839-58340174	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv569593	chr15:58201698-58308650	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58207200-58214600	Weak transcription	Fetal Kidney	kidney
2	chr15:58207400-58214600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:58207600-58215000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:58209200-58214800	Weak transcription	Lung	lung
5	chr15:58209200-58215000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:58209400-58214600	Weak transcription	Fetal Lung	lung
7	chr15:58211000-58214400	Weak transcription	Pancreas	Pancrea
8	chr15:58211800-58217200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr15:58212200-58216400	Enhancers	Left Ventricle	heart
10	chr15:58212400-58217400	Enhancers	Fetal Muscle Leg	muscle
11	chr15:58212600-58215200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr15:58212600-58217000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr15:58212800-58214400	Weak transcription	Spleen	Spleen
14	chr15:58212800-58216000	Weak transcription	Esophagus	oesophagus
15	chr15:58213000-58215400	Enhancers	HUVEC	blood vessel
16	chr15:58213200-58215400	Enhancers	Right Ventricle	heart
17	chr15:58213200-58216600	Enhancers	Ovary	ovary
18	chr15:58213200-58217200	Enhancers	Adipose Nuclei	Adipose
19	chr15:58213400-58214400	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:58213400-58214400	Weak transcription	Fetal Heart	heart
21	chr15:58213400-58214800	Weak transcription	Gastric	stomach
22	chr15:58213600-58214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:58213600-58214600	Weak transcription	Stomach Mucosa	stomach
24	chr15:58213600-58215000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:58213600-58216200	Enhancers	Small Intestine	intestine
26	chr15:58213800-58215600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr15:58214000-58214400	Weak transcription	Right Atrium	heart
28	chr15:58214000-58215000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:58214000-58215000	Weak transcription	HSMMtube	muscle
30	chr15:58214000-58215200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:58214000-58215600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:58214000-58215600	Weak transcription	HSMM	muscle
33	chr15:58214000-58217600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:58214200-58216200	Enhancers	Psoas Muscle	Psoas
35	chr15:58214200-58216800	Enhancers	Liver	Liver

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