Variant report

Variant	rs12594731
Chromosome Location	chr15:33082538-33082539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10152477	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12594522	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12915737	0.84[ASN][1000 genomes]
rs1451889	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958655	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16958658	0.89[AMR][1000 genomes]
rs16958882	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16958934	1.00[AFR][1000 genomes]
rs35996545	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55736222	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58590974	0.89[ASN][1000 genomes]
rs59331673	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9806473	0.84[AMR][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	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv482680	chr15:32958401-33154005	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv832961	chr15:33021177-33134988	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv903977	chr15:33040782-33117302	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33060600-33097600	Weak transcription	Thymus	Thymus
2	chr15:33061200-33141000	Weak transcription	Placenta	Placenta
3	chr15:33062600-33111200	Weak transcription	Gastric	stomach
4	chr15:33063800-33094400	Weak transcription	Fetal Stomach	stomach
5	chr15:33065800-33098600	Weak transcription	Colonic Mucosa	Colon
6	chr15:33067200-33089000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:33071400-33082600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:33072600-33090200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:33072800-33087200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:33074800-33084200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:33075000-33096400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr15:33079800-33094200	Weak transcription	HSMM	muscle
13	chr15:33080000-33090400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:33080800-33094800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr15:33081600-33083400	Enhancers	NHLF	lung
16	chr15:33081800-33083200	Enhancers	Osteobl	bone
17	chr15:33081800-33090400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:33082000-33083000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr15:33082000-33083200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr15:33082000-33083600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:33082000-33085200	Enhancers	NHDF-Ad	bronchial
22	chr15:33082200-33082800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr15:33082200-33083000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:33082200-33083000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:33082200-33083000	Enhancers	HepG2	liver
26	chr15:33082200-33083200	Enhancers	Liver	Liver
27	chr15:33082200-33083200	Enhancers	Hela-S3	cervix
28	chr15:33082200-33083200	Enhancers	NH-A	brain
29	chr15:33082200-33083400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:33082400-33082600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr15:33082400-33082600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:33082400-33082600	Enhancers	Pancreas	Pancrea
33	chr15:33082400-33082800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:33082400-33082800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:33082400-33082800	Flanking Active TSS	A549	lung
36	chr15:33082400-33083000	Enhancers	Stomach Smooth Muscle	stomach
37	chr15:33082400-33083000	Enhancers	HSMMtube	muscle

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