Variant report

Variant	rs74012386
Chromosome Location	chr15:49758026-49758027
allele	C/T
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:19)

rs_ID	r²[population]
rs16962159	1.00[AMR][1000 genomes]
rs16962194	1.00[AMR][1000 genomes]
rs16962260	1.00[AMR][1000 genomes]
rs16962301	1.00[AMR][1000 genomes]
rs16962445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16962457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16962483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2413940	1.00[AMR][1000 genomes]
rs58357997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012342	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012344	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012377	1.00[AMR][1000 genomes]
rs74012379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012381	1.00[AMR][1000 genomes]
rs74012382	1.00[AMR][1000 genomes]
rs74012383	1.00[AMR][1000 genomes]
rs74012388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012389	0.96[AFR][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	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv9263	chr15:49734435-49809465	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv974574	chr15:49752716-49764974	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49752400-49764000	Weak transcription	HSMM	muscle
2	chr15:49752600-49758200	Enhancers	NHDF-Ad	bronchial
3	chr15:49753200-49758800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:49753800-49758400	Weak transcription	Hela-S3	cervix
5	chr15:49754200-49758600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:49754200-49759200	Weak transcription	Adipose Nuclei	Adipose
7	chr15:49754400-49759400	Weak transcription	HSMMtube	muscle
8	chr15:49754600-49759800	Genic enhancers	Osteobl	bone
9	chr15:49755000-49758400	Weak transcription	NHLF	lung
10	chr15:49755000-49764000	Weak transcription	Fetal Lung	lung
11	chr15:49755400-49758800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:49755400-49758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:49755400-49764200	Weak transcription	Fetal Heart	heart
14	chr15:49755600-49758800	Weak transcription	Ovary	ovary
15	chr15:49755800-49758800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr15:49756000-49758400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:49756000-49758400	Weak transcription	Liver	Liver
18	chr15:49756200-49758200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:49756400-49758200	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:49756400-49758400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:49757800-49758200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:49757800-49760200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:49757800-49760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:49758000-49758200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:49758000-49759800	Active TSS	Stomach Smooth Muscle	stomach
26	chr15:49758000-49761000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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