Variant report

Variant	rs72486668
Chromosome Location	chr15:33112299-33112300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:33111785..33114105-chr15:33134762..33137156,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10519750	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1881537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55646743	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59228858	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74011839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74011841	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74011842	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv1482	chr15:33083166-33113644	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33061200-33141000	Weak transcription	Placenta	Placenta
2	chr15:33096200-33154000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:33096400-33116200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:33096400-33159000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:33103800-33139200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:33110800-33114000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:33111200-33112400	Enhancers	Fetal Stomach	stomach
8	chr15:33111200-33112400	Enhancers	HSMM	muscle
9	chr15:33111200-33130000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:33111400-33114200	Enhancers	HUVEC	blood vessel
11	chr15:33111400-33116000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:33111600-33112400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:33111600-33113400	Enhancers	A549	lung
14	chr15:33111600-33115200	Weak transcription	Pancreas	Pancrea
15	chr15:33111600-33116200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:33111600-33118400	Weak transcription	Gastric	stomach
17	chr15:33111800-33112600	Enhancers	NH-A	brain
18	chr15:33111800-33113200	Enhancers	NHDF-Ad	bronchial
19	chr15:33111800-33113200	Enhancers	Osteobl	bone
20	chr15:33111800-33113600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr15:33111800-33115000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:33111800-33116000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:33111800-33116000	Weak transcription	HSMMtube	muscle
24	chr15:33111800-33116400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:33111800-33116400	Weak transcription	NHEK	skin
26	chr15:33111800-33116600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:33112000-33116000	Weak transcription	NHLF	lung
28	chr15:33112000-33116600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:33112000-33126800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:33112000-33130600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr15:33112200-33116000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:33112200-33116000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:33112200-33116400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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