Variant report

Variant	rs12050525
Chromosome Location	chr15:79075746-79075747
allele	C/T
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:25)

rs_ID	r²[population]
rs11072803	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11072804	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11072806	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11631955	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11632102	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11634042	0.80[AMR][1000 genomes]
rs11634450	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11638321	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11639044	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11856536	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11858210	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12592721	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12899147	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12903203	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1825087	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1994016	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2277545	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2277546	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28610385	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2904220	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825807	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4886592	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4887113	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7173267	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7177699	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv977739	chr15:79062099-79080757	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79043600-79077800	Weak transcription	Brain Germinal Matrix	brain
2	chr15:79054000-79083200	Weak transcription	Fetal Intestine Small	intestine
3	chr15:79055000-79076400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:79057000-79076400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:79058000-79090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:79060800-79078600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:79061000-79078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:79061000-79078800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:79061000-79078800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr15:79061000-79080000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:79061600-79080400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:79062200-79080200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr15:79063800-79078600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:79064800-79077200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:79069000-79080000	Weak transcription	Osteobl	bone
16	chr15:79069200-79090200	Weak transcription	NHDF-Ad	bronchial
17	chr15:79071200-79077200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:79071200-79077600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:79071200-79078800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:79071200-79079800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:79071200-79080200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:79071400-79078000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:79071400-79078400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:79071400-79078600	Weak transcription	Fetal Brain Female	brain
25	chr15:79071400-79080200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:79072000-79080000	Weak transcription	NHLF	lung
27	chr15:79072000-79096600	Weak transcription	Brain Substantia Nigra	brain
28	chr15:79072000-79096800	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:79072200-79077200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:79072200-79077200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr15:79072200-79077200	Weak transcription	Fetal Lung	lung
32	chr15:79072200-79078000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:79072200-79078000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr15:79072200-79078200	Weak transcription	Fetal Stomach	stomach
35	chr15:79072200-79078600	Weak transcription	Ovary	ovary
36	chr15:79072200-79080200	Weak transcription	Lung	lung
37	chr15:79072200-79082000	Weak transcription	Right Atrium	heart
38	chr15:79072800-79077200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:79072800-79078400	Weak transcription	HUVEC	blood vessel
40	chr15:79072800-79078800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr15:79072800-79080000	Weak transcription	Aorta	Aorta
42	chr15:79072800-79082000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:79072800-79089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:79072800-79102400	Weak transcription	Fetal Kidney	kidney
45	chr15:79073800-79080200	Weak transcription	Spleen	Spleen
46	chr15:79074000-79077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:79074000-79078800	Weak transcription	Left Ventricle	heart
48	chr15:79074200-79077200	Weak transcription	Adipose Nuclei	Adipose
49	chr15:79074200-79078600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr15:79074200-79080200	Weak transcription	Right Ventricle	heart

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