Variant report

Variant	rs1809423
Chromosome Location	chr15:79059670-79059671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11630236	0.88[EUR][1000 genomes]
rs11633351	0.90[EUR][1000 genomes]
rs11635870	0.82[EUR][1000 genomes]
rs12898323	0.82[EUR][1000 genomes]
rs12906653	0.88[EUR][1000 genomes]
rs12916326	0.87[EUR][1000 genomes]
rs1807006	0.82[EUR][1000 genomes]
rs1809419	0.84[EUR][1000 genomes]
rs1810165	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743063	0.81[EUR][1000 genomes]
rs3894351	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3894352	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887095	0.86[EUR][1000 genomes]
rs4887096	0.86[EUR][1000 genomes]
rs4887099	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043119	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79040600-79060000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:79043600-79077800	Weak transcription	Brain Germinal Matrix	brain
3	chr15:79046400-79063200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:79051800-79070600	Weak transcription	Fetal Brain Female	brain
5	chr15:79052800-79070600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:79052800-79070800	Weak transcription	Ovary	ovary
7	chr15:79052800-79071000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:79053200-79063200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:79053200-79063800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:79053200-79071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:79054000-79068600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:79054000-79083200	Weak transcription	Fetal Intestine Small	intestine
13	chr15:79054200-79060000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:79054400-79070600	Weak transcription	HSMM	muscle
15	chr15:79054600-79060000	Weak transcription	HSMMtube	muscle
16	chr15:79054600-79064000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:79054600-79070000	Weak transcription	Fetal Lung	lung
18	chr15:79054600-79070400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr15:79054800-79070600	Weak transcription	Adipose Nuclei	Adipose
20	chr15:79055000-79063000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:79055000-79069800	Weak transcription	Left Ventricle	heart
22	chr15:79055000-79076400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:79055800-79070000	Weak transcription	Lung	lung
24	chr15:79056000-79060000	Strong transcription	Fetal Stomach	stomach
25	chr15:79056400-79059800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:79056400-79063200	Weak transcription	Right Ventricle	heart
27	chr15:79056600-79070600	Weak transcription	Right Atrium	heart
28	chr15:79057000-79060600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr15:79057000-79076400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:79057600-79061600	Weak transcription	Brain Substantia Nigra	brain
31	chr15:79057800-79060600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:79058000-79060600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:79058000-79090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:79058600-79060200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:79058600-79061800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr15:79058600-79068600	Weak transcription	Spleen	Spleen
37	chr15:79058800-79061000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:79059000-79068600	Weak transcription	Fetal Muscle Leg	muscle
39	chr15:79059400-79071000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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