Variant report

Variant	rs28547469
Chromosome Location	chr15:72227516-72227517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12101457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12101672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28368570	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28415882	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28446198	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28478343	1.00[AMR][1000 genomes]
rs28493313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526815	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28613926	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28627195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28636457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28748021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28758400	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28805409	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28897422	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764190	0.85[AMR][1000 genomes]
rs56087519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer 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	11 gene(s)	inside rSNPs	diseases
2	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
3	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv904336	chr15:72145937-72329906	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv457195	chr15:72177659-72250741	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv569909	chr15:72177659-72250741	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv457197	chr15:72203517-72296328	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv569910	chr15:72203517-72296328	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv569911	chr15:72203517-72305982	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv457198	chr15:72203517-72325595	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv569912	chr15:72203517-72325595	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72191200-72229600	Weak transcription	HUVEC	blood vessel
2	chr15:72192400-72241200	Weak transcription	Brain Angular Gyrus	brain
3	chr15:72192400-72249400	Weak transcription	NHLF	lung
4	chr15:72193800-72232000	Weak transcription	Fetal Heart	heart
5	chr15:72219200-72232600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:72219200-72239000	Weak transcription	Aorta	Aorta
7	chr15:72221800-72228200	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:72222000-72227800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:72222200-72232400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:72222600-72228800	Strong transcription	NHDF-Ad	bronchial
11	chr15:72223600-72228400	Strong transcription	Osteobl	bone
12	chr15:72223800-72231000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:72224000-72227600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:72224200-72228600	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:72224800-72228800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr15:72225000-72227600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:72225000-72227800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr15:72225000-72227800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:72225000-72227800	Strong transcription	Adipose Nuclei	Adipose
20	chr15:72225000-72228000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:72225000-72228600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:72225000-72228600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:72225000-72229400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:72225000-72230200	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:72225000-72230400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:72225000-72230600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr15:72225000-72231200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:72225000-72231200	Strong transcription	HSMM	muscle
29	chr15:72225000-72231800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr15:72225000-72232200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:72225000-72232400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:72225000-72232600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:72225000-72232600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:72225000-72246000	Weak transcription	Colonic Mucosa	Colon
35	chr15:72225000-72249400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:72225000-72249600	Weak transcription	NH-A	brain
37	chr15:72225000-72255400	Weak transcription	Left Ventricle	heart
38	chr15:72225000-72259800	Weak transcription	Brain Anterior Caudate	brain
39	chr15:72225000-72263600	Weak transcription	Fetal Stomach	stomach
40	chr15:72225000-72267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:72225000-72281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:72225000-72282000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
44	chr15:72225000-72305600	Weak transcription	Gastric	stomach
45	chr15:72225200-72227800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:72225200-72228200	Weak transcription	Fetal Brain Female	brain
47	chr15:72225200-72228600	Weak transcription	A549	lung
48	chr15:72225200-72228800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:72225200-72228800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr15:72225200-72228800	Strong transcription	Fetal Lung	lung

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