Variant report

Variant	rs2414024
Chromosome Location	chr15:50430575-50430576
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50429608..50431277-chr15:50435108..50437577,2	K562	blood:
2	chr15:50408457..50409368-chr15:50430353..50431313,7	MCF-7	breast:
3	chr15:50168681..50169642-chr15:50430274..50431207,4	MCF-7	breast:
4	chr15:50330960..50333313-chr15:50430196..50432185,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104043	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12898273	1.00[AFR][1000 genomes]
rs2414017	0.80[AFR][1000 genomes]
rs2414026	1.00[AFR][1000 genomes]
rs2899455	0.95[AFR][1000 genomes]
rs4375607	0.80[AFR][1000 genomes]
rs4525435	0.89[AFR][1000 genomes]
rs4570773	0.80[AFR][1000 genomes]
rs4774555	1.00[AFR][1000 genomes]
rs4775853	0.95[AFR][1000 genomes]
rs4775856	0.95[AFR][1000 genomes]
rs6493404	1.00[AFR][1000 genomes]
rs6493405	1.00[AFR][1000 genomes]
rs6493406	1.00[AFR][1000 genomes]
rs7168389	0.80[AFR][1000 genomes]
rs7170837	1.00[AFR][1000 genomes]
rs8029368	1.00[AFR][1000 genomes]
rs8036504	0.86[AFR][1000 genomes]
rs8036936	1.00[AFR][1000 genomes]
rs8038060	1.00[AFR][1000 genomes]
rs9302152	1.00[AFR][1000 genomes]
rs9302153	1.00[AFR][1000 genomes]
rs933853	0.85[AFR][1000 genomes]
rs9920425	1.00[AFR][1000 genomes]
rs9920525	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv904208	chr15:50428495-50457858	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50425800-50430800	Enhancers	NHDF-Ad	bronchial
2	chr15:50426000-50430600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:50426000-50430800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:50426400-50430600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:50426400-50430600	Enhancers	NHLF	lung
6	chr15:50426400-50430800	Enhancers	Osteobl	bone
7	chr15:50427800-50436400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:50428800-50430600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:50428800-50432400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:50429000-50430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:50429000-50434200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:50429000-50437000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:50429000-50437600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr15:50429200-50430600	Enhancers	NHEK	skin
15	chr15:50429200-50430800	Enhancers	HMEC	breast
16	chr15:50429600-50430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:50429600-50434600	Weak transcription	Colon Smooth Muscle	Colon
18	chr15:50429800-50430600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:50429800-50431800	Weak transcription	Fetal Stomach	stomach
20	chr15:50430000-50432200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:50430200-50431200	Enhancers	A549	lung
22	chr15:50430200-50433600	Enhancers	Hela-S3	cervix
23	chr15:50430400-50430600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:50430400-50432600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:50430400-50433000	Weak transcription	HUVEC	blood vessel
26	chr15:50430400-50436800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:50430400-50436800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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