Variant report

Variant	rs28463280
Chromosome Location	chr15:72844805-72844806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12324257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329347	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2577576	1.00[AMR][1000 genomes]
rs28396210	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28418777	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28451211	1.00[AMR][1000 genomes]
rs28451625	1.00[AMR][1000 genomes]
rs28483407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575961	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28635032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687667	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28869264	0.84[AFR][1000 genomes]
rs74021506	1.00[AMR][1000 genomes]
rs74022835	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024328	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
2	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
4	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv569947	chr15:72800853-72878772	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1054626	chr15:72811402-72867502	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv569948	chr15:72811402-72878772	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72796800-72855400	Weak transcription	Esophagus	oesophagus
2	chr15:72805600-72848200	Weak transcription	Fetal Brain Male	brain
3	chr15:72806600-72846800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:72809000-72855400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr15:72814400-72847000	Weak transcription	Ovary	ovary
6	chr15:72814800-72859200	Weak transcription	Brain Angular Gyrus	brain
7	chr15:72827800-72846800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:72828600-72869800	Weak transcription	Aorta	Aorta
9	chr15:72829200-72880800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:72830200-72846800	Weak transcription	Brain Anterior Caudate	brain
11	chr15:72830400-72866800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:72830800-72867400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:72831000-72854600	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:72831400-72848400	Weak transcription	Brain Substantia Nigra	brain
15	chr15:72833400-72846600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:72833400-72858600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr15:72833600-72846600	Weak transcription	Fetal Brain Female	brain
18	chr15:72833600-72846800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr15:72833600-72847000	Weak transcription	Brain Germinal Matrix	brain
20	chr15:72833600-72848200	Weak transcription	HSMMtube	muscle
21	chr15:72833600-72848400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:72833600-72848400	Weak transcription	Colonic Mucosa	Colon
23	chr15:72833600-72854000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:72833600-72854400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:72833600-72855400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:72833600-72855600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr15:72833600-72865000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:72833600-72867000	Weak transcription	Right Ventricle	heart
29	chr15:72833600-72870200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:72833600-72870400	Weak transcription	Gastric	stomach
31	chr15:72833800-72847200	Weak transcription	GM12878-XiMat	blood
32	chr15:72833800-72847400	Weak transcription	NHEK	skin
33	chr15:72833800-72856000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:72834400-72848600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:72834800-72858600	Weak transcription	Psoas Muscle	Psoas
36	chr15:72835200-72876000	Weak transcription	Pancreas	Pancrea
37	chr15:72835600-72870400	Weak transcription	Spleen	Spleen
38	chr15:72836600-72870000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:72837600-72846600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr15:72837600-72846800	Weak transcription	HMEC	breast
41	chr15:72837600-72847800	Weak transcription	Colon Smooth Muscle	Colon
42	chr15:72837600-72847800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr15:72837800-72846600	Weak transcription	NH-A	brain
44	chr15:72838000-72846600	Weak transcription	Adipose Nuclei	Adipose
45	chr15:72838000-72846800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:72838000-72847200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr15:72838400-72846800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr15:72838600-72847400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr15:72838600-72847600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:72838600-72855400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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