Variant report

Variant	rs74012376
Chromosome Location	chr15:49730087-49730088
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49725074..49727575-chr15:49729754..49732009,2	K562	blood:

Variant related genes	Relation type
ENSG00000140285	Chromatin interaction

Extended variants
information (count: 21 )
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]
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]
rs74012386	1.00[AFR][1000 genomes];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: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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49716200-49732200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr15:49716400-49737200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:49718000-49731200	Weak transcription	Left Ventricle	heart
4	chr15:49719400-49731200	Weak transcription	Fetal Muscle Leg	muscle
5	chr15:49721000-49736200	Weak transcription	Right Ventricle	heart
6	chr15:49725400-49731000	Weak transcription	Brain Substantia Nigra	brain
7	chr15:49725400-49733800	Enhancers	Rectal Smooth Muscle	rectum
8	chr15:49726200-49732800	Enhancers	Fetal Heart	heart
9	chr15:49726800-49731200	Weak transcription	Ovary	ovary
10	chr15:49727000-49730400	Enhancers	Colon Smooth Muscle	Colon
11	chr15:49728200-49732400	Enhancers	Fetal Stomach	stomach
12	chr15:49728400-49730400	Enhancers	NHLF	lung
13	chr15:49728800-49731200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:49729000-49731200	Enhancers	Osteobl	bone
15	chr15:49729000-49731400	Weak transcription	Fetal Kidney	kidney
16	chr15:49729000-49733200	Weak transcription	HSMMtube	muscle
17	chr15:49729200-49731000	Weak transcription	Fetal Lung	lung
18	chr15:49729200-49731200	Weak transcription	HSMM	muscle
19	chr15:49729200-49731400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:49729400-49730200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr15:49729600-49730800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr15:49729800-49730200	Enhancers	Adipose Nuclei	Adipose
23	chr15:49729800-49731200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:49729800-49731200	Enhancers	Stomach Smooth Muscle	stomach
25	chr15:49730000-49730200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:49730000-49730200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:49730000-49731600	Weak transcription	NH-A	brain
28	chr15:49730000-49732400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:49730000-49732400	Enhancers	NHDF-Ad	bronchial
30	chr15:49730000-49733800	Enhancers	Primary hematopoietic stem cells	blood

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