Variant report

Variant	rs12592721
Chromosome Location	chr15:79099145-79099146
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79097262..79100140-chr15:79101746..79103846,2	K562	blood:

Variant related genes	Relation type
ENSG00000136378	Chromatin interaction
ENSG00000185787	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11072803	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11072804	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11072806	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11631955	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11632102	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11634042	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11634450	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11638321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11639044	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11856536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858210	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12050525	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12592762	0.84[ASN][1000 genomes]
rs12899147	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12903203	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1825087	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1994016	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2277545	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2277546	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28610385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2904220	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3825807	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886592	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4887113	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7173267	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7177699	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79072800-79102400	Weak transcription	Fetal Kidney	kidney
2	chr15:79082800-79102200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:79083200-79102000	Weak transcription	Fetal Heart	heart
4	chr15:79083800-79102400	Weak transcription	Aorta	Aorta
5	chr15:79088800-79102600	Weak transcription	Ovary	ovary
6	chr15:79090200-79101000	Weak transcription	Fetal Lung	lung
7	chr15:79090200-79101000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:79090800-79101000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:79090800-79101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:79090800-79101400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:79090800-79102200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:79091200-79101400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:79091200-79101400	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:79091200-79101600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:79091200-79101800	Weak transcription	Right Atrium	heart
16	chr15:79091200-79102200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:79091200-79102200	Weak transcription	Osteobl	bone
18	chr15:79091400-79101400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:79091400-79102000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:79093000-79102400	Weak transcription	Right Ventricle	heart
21	chr15:79093200-79102000	Weak transcription	Fetal Stomach	stomach
22	chr15:79094000-79099800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:79095000-79099200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr15:79096200-79099200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr15:79096600-79101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:79096600-79101000	Weak transcription	HSMM	muscle
27	chr15:79097200-79101000	Weak transcription	Fetal Brain Female	brain
28	chr15:79097200-79101200	Weak transcription	Left Ventricle	heart
29	chr15:79097200-79101200	Weak transcription	HSMMtube	muscle
30	chr15:79097200-79101800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr15:79097200-79102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:79097400-79102400	Weak transcription	Colon Smooth Muscle	Colon
33	chr15:79098000-79099200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr15:79098400-79101000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:79098400-79102200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:79098800-79099200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr15:79098800-79099200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:79099000-79099200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:79099000-79101200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:79099000-79101200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:79099000-79101200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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