Variant report

Variant	rs74012377
Chromosome Location	chr15:49733058-49733059
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

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[AMR][1000 genomes]
rs16962457	1.00[AMR][1000 genomes]
rs16962483	1.00[AMR][1000 genomes]
rs2413940	1.00[AMR][1000 genomes]
rs58357997	1.00[AMR][1000 genomes]
rs74012342	1.00[AMR][1000 genomes]
rs74012344	1.00[AMR][1000 genomes]
rs74012376	1.00[AMR][1000 genomes]
rs74012379	1.00[AMR][1000 genomes]
rs74012381	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012382	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012383	1.00[AMR][1000 genomes]
rs74012386	1.00[AMR][1000 genomes]
rs74012388	1.00[AMR][1000 genomes]
rs8035804	0.94[AFR][1000 genomes]
rs8035988	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49716400-49737200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:49721000-49736200	Weak transcription	Right Ventricle	heart
3	chr15:49725400-49733800	Enhancers	Rectal Smooth Muscle	rectum
4	chr15:49729000-49733200	Weak transcription	HSMMtube	muscle
5	chr15:49730000-49733800	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:49730400-49744600	Weak transcription	NHLF	lung
7	chr15:49731200-49733800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:49731600-49733600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:49731600-49733800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:49731600-49734600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:49731600-49734600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr15:49732000-49736600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:49732000-49750200	Weak transcription	HSMM	muscle
14	chr15:49732200-49733200	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:49732200-49736200	Weak transcription	Ovary	ovary
16	chr15:49732200-49736200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:49732400-49733400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:49732400-49736800	Weak transcription	Fetal Stomach	stomach
19	chr15:49732400-49738200	Weak transcription	NHDF-Ad	bronchial
20	chr15:49732600-49733200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:49732600-49733400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:49732800-49733600	Genic enhancers	Osteobl	bone
23	chr15:49732800-49741000	Weak transcription	Fetal Heart	heart
24	chr15:49733000-49733600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:49733000-49733600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr15:49733000-49734000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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