Variant report

Variant	rs16948246
Chromosome Location	chr15:44221260-44221261
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10152845	1.00[EUR][1000 genomes]
rs16951321	1.00[EUR][1000 genomes]
rs16951483	1.00[EUR][1000 genomes]
rs16951943	1.00[EUR][1000 genomes]
rs16952165	1.00[EUR][1000 genomes]
rs16952651	1.00[EUR][1000 genomes]
rs16958828	1.00[EUR][1000 genomes]
rs16959032	1.00[EUR][1000 genomes]
rs16961830	1.00[EUR][1000 genomes]
rs16964662	1.00[EUR][1000 genomes]
rs16965109	1.00[EUR][1000 genomes]
rs2447217	1.00[EUR][1000 genomes]
rs2467416	1.00[EUR][1000 genomes]
rs2614830	1.00[EUR][1000 genomes]
rs28517525	1.00[EUR][1000 genomes]
rs58541819	1.00[EUR][1000 genomes]
rs62018896	1.00[EUR][1000 genomes]
rs7168522	1.00[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44208800-44222600	Weak transcription	Fetal Brain Female	brain
2	chr15:44211800-44221800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr15:44211800-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:44212400-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:44213400-44221600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:44214000-44221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:44214000-44224400	Weak transcription	Right Atrium	heart
8	chr15:44214400-44224000	Weak transcription	HSMMtube	muscle
9	chr15:44215800-44221400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:44216600-44222200	Weak transcription	NH-A	brain
11	chr15:44217800-44223200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr15:44217800-44223200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr15:44217800-44223200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:44218000-44221800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:44218000-44223200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:44218000-44225600	Enhancers	Fetal Heart	heart
17	chr15:44218200-44222200	Weak transcription	NHDF-Ad	bronchial
18	chr15:44218200-44222200	Weak transcription	NHLF	lung
19	chr15:44218400-44222200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:44218600-44228400	Enhancers	Brain Substantia Nigra	brain
21	chr15:44219600-44225000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:44219600-44225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:44219800-44222200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:44219800-44223200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:44219800-44225200	Weak transcription	NHEK	skin
26	chr15:44220400-44227400	Enhancers	Brain Cingulate Gyrus	brain
27	chr15:44220400-44227600	Enhancers	Brain Hippocampus Middle	brain
28	chr15:44220600-44223200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr15:44220800-44221400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:44220800-44223000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr15:44220800-44223000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr15:44220800-44223200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:44220800-44227400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr15:44221000-44221400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr15:44221000-44221400	Weak transcription	Brain Angular Gyrus	brain
36	chr15:44221000-44222000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr15:44221000-44222400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr15:44221000-44222600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:44221000-44223400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr15:44221000-44225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr15:44221200-44223000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr15:44221200-44227400	Enhancers	Brain Anterior Caudate	brain

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