Variant report

Variant	rs2270487
Chromosome Location	chr15:57848768-57848769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11856	0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12439291	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12439292	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1620315	0.95[ASN][1000 genomes]
rs1620402	0.93[ASN][1000 genomes]
rs1623697	0.93[ASN][1000 genomes]
rs1626448	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1630903	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1666572	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1666573	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1690316	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1690317	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1690318	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17820431	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17820437	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17820449	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17820461	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17820467	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1908189	0.93[ASN][1000 genomes]
rs1908191	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1908192	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1908193	0.81[AFR][1000 genomes]
rs2131730	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2131731	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2131733	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279608	0.89[AFR][1000 genomes]
rs2635389	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2922231	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2922232	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2932208	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2932209	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2934418	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3742963	0.86[AMR][1000 genomes]
rs3742964	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4774960	0.95[ASN][1000 genomes]
rs4774961	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4774962	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55916627	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55952634	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56362917	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59368768	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66802357	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67336499	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7166305	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7171354	0.87[EUR][1000 genomes]
rs7171360	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72741528	0.80[EUR][1000 genomes]
rs8038795	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs937248	0.86[AMR][1000 genomes];0.82[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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv984075	chr15:57848182-57848879	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57837800-57853000	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:57840800-57849400	Enhancers	Fetal Muscle Leg	muscle
3	chr15:57844200-57848800	Enhancers	Fetal Heart	heart
4	chr15:57844600-57852200	Weak transcription	HepG2	liver
5	chr15:57844600-57859000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:57844800-57857400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:57845200-57852400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:57845200-57857600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:57846200-57852400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:57846800-57861400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:57847000-57854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:57847200-57853400	Weak transcription	NHEK	skin
13	chr15:57847200-57854400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:57847400-57852200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr15:57847600-57849000	Enhancers	HUVEC	blood vessel
16	chr15:57847600-57851800	Weak transcription	Liver	Liver
17	chr15:57847600-57852200	Weak transcription	A549	lung
18	chr15:57847600-57852200	Weak transcription	HMEC	breast
19	chr15:57847600-57853400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:57847600-57854400	Weak transcription	Pancreas	Pancrea
21	chr15:57847600-57859200	Weak transcription	Right Ventricle	heart
22	chr15:57847800-57850200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:57847800-57852000	Weak transcription	Stomach Mucosa	stomach
24	chr15:57847800-57852400	Weak transcription	Fetal Intestine Large	intestine
25	chr15:57847800-57852400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr15:57847800-57852600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:57847800-57853600	Weak transcription	Fetal Stomach	stomach
28	chr15:57847800-57859000	Weak transcription	Gastric	stomach
29	chr15:57847800-57859200	Weak transcription	Ovary	ovary
30	chr15:57847800-57859200	Weak transcription	Right Atrium	heart
31	chr15:57848000-57852400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:57848200-57848800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:57848200-57849400	Enhancers	Fetal Muscle Trunk	muscle
34	chr15:57848200-57851000	Weak transcription	NH-A	brain
35	chr15:57848600-57848800	Enhancers	Brain Anterior Caudate	brain
36	chr15:57848600-57852200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:57848600-57852200	Weak transcription	Hela-S3	cervix

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