Variant report

Variant	rs2930525
Chromosome Location	chr15:44250911-44250912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11853395	0.83[EUR][1000 genomes]
rs1561458	0.83[EUR][1000 genomes]
rs16949992	0.83[EUR][1000 genomes]
rs2623015	0.97[EUR][1000 genomes]
rs28654093	0.83[EUR][1000 genomes]
rs28729677	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2918952	0.83[EUR][1000 genomes]
rs2929275	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2929277	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2929279	0.86[EUR][1000 genomes]
rs2929282	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2930523	0.86[EUR][1000 genomes]
rs2930524	0.86[EUR][1000 genomes]
rs34497759	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4321171	0.83[EUR][1000 genomes]
rs492571	0.83[EUR][1000 genomes]
rs545119	0.86[EUR][1000 genomes]
rs59561000	0.86[EUR][1000 genomes]
rs59770554	0.86[EUR][1000 genomes]
rs74009159	0.83[EUR][1000 genomes]
rs74009160	0.83[EUR][1000 genomes]
rs8035382	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8035402	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8035689	0.83[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	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44227200-44251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:44247600-44251000	Weak transcription	HMEC	breast
3	chr15:44248400-44251200	Weak transcription	Fetal Heart	heart
4	chr15:44249800-44251400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:44249800-44252000	Enhancers	Brain Hippocampus Middle	brain
6	chr15:44249800-44252200	Enhancers	Brain Anterior Caudate	brain
7	chr15:44249800-44252200	Enhancers	NHLF	lung
8	chr15:44250000-44251000	Enhancers	NH-A	brain
9	chr15:44250000-44251800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr15:44250000-44252000	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:44250000-44252000	Enhancers	NHDF-Ad	bronchial
12	chr15:44250000-44253200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:44250400-44251400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:44250400-44252000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr15:44250400-44252000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:44250600-44251000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr15:44250600-44251000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:44250600-44251200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr15:44250600-44251200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:44250600-44251400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:44250600-44251600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:44250600-44251600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:44250600-44251600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr15:44250600-44251600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr15:44250600-44251600	Enhancers	HSMMtube	muscle
26	chr15:44250600-44251800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:44250600-44252000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr15:44250600-44252000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr15:44250600-44252200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:44250600-44252200	Enhancers	Brain Substantia Nigra	brain
31	chr15:44250800-44251200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:44250800-44251200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:44250800-44251200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:44250800-44251400	Active TSS	Stomach Smooth Muscle	stomach
35	chr15:44250800-44251600	Enhancers	Brain Angular Gyrus	brain
36	chr15:44250800-44251800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr15:44250800-44251800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr15:44250800-44251800	Enhancers	Fetal Brain Male	brain
39	chr15:44250800-44252000	Enhancers	HSMM	muscle
40	chr15:44250800-44252000	Enhancers	Osteobl	bone

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