Variant report

Variant	rs2414032
Chromosome Location	chr15:50458661-50458662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50454057..50460168-chr15:50645536..50649910,8	MCF-7	breast:
2	chr15:50458011..50460195-chr15:50646104..50647802,3	MCF-7	breast:
3	chr15:50458627..50460715-chr15:50469369..50472298,3	MCF-7	breast:
4	chr15:50456856..50459058-chr15:50459344..50460861,2	K562	blood:

Variant related genes	Relation type
ENSG00000244879	Chromatin interaction
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11070759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632411	0.81[ASN][1000 genomes]
rs11637945	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11853762	0.93[ASN][1000 genomes]
rs12591392	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12913072	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2414029	0.95[ASN][1000 genomes]
rs2414030	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28550188	0.81[ASN][1000 genomes]
rs28566671	0.83[ASN][1000 genomes]
rs57187078	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59983467	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60925368	0.93[ASN][1000 genomes]
rs6493413	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7174037	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176815	0.95[ASN][1000 genomes]
rs7179178	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7179848	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8029891	0.81[ASN][1000 genomes]
rs8030807	0.81[ASN][1000 genomes]
rs8036133	0.90[ASN][1000 genomes]
rs8038363	0.81[ASN][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	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	nsv904209	chr15:50444824-50482133	Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50455200-50459000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:50455200-50459200	Enhancers	HMEC	breast
3	chr15:50455200-50459200	Enhancers	NHEK	skin
4	chr15:50455400-50461400	Enhancers	Liver	Liver
5	chr15:50456200-50459200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr15:50456200-50460400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:50456400-50459400	Enhancers	Osteobl	bone
8	chr15:50456600-50459200	Enhancers	NHDF-Ad	bronchial
9	chr15:50457400-50459200	Enhancers	NH-A	brain
10	chr15:50457600-50458800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:50457600-50458800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr15:50457600-50459000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:50457600-50459200	Flanking Active TSS	A549	lung
14	chr15:50457600-50459200	Weak transcription	HepG2	liver
15	chr15:50457600-50459800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr15:50458000-50458800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:50458200-50459200	Enhancers	HUVEC	blood vessel
18	chr15:50458400-50459600	Enhancers	NHLF	lung
19	chr15:50458600-50459000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:50458600-50459000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:50458600-50459000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:50458600-50459000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:50458600-50459000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:50458600-50459000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:50458600-50459000	Enhancers	HSMM	muscle
26	chr15:50458600-50459200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:50458600-50459200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:50458600-50459200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:50458600-50459200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:50458600-50459200	Flanking Active TSS	Hela-S3	cervix
31	chr15:50458600-50459200	Enhancers	HSMMtube	muscle
32	chr15:50458600-50459400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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