Variant report

Variant	rs2414030
Chromosome Location	chr15:50456490-50456491
allele	C/T
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	chr15:50452950..50455198-chr15:50455553..50458422,2	MCF-7	breast:
3	chr15:50453981..50457039-chr15:50645727..50648852,3	K562	blood:
4	chr15:50453145..50457285-chr15:50473391..50475855,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244879	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000104043	Chromatin interaction
ENSG00000140284	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11070754	0.85[AFR][1000 genomes]
rs11070759	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632411	0.81[ASN][1000 genomes]
rs11637945	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11853762	0.93[ASN][1000 genomes]
rs12591392	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12913072	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2414029	0.95[ASN][1000 genomes]
rs2414032	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]
rs4775860	0.85[AFR][1000 genomes]
rs57187078	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59983467	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60925368	0.93[ASN][1000 genomes]
rs6493413	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7174037	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176815	0.95[ASN][1000 genomes]
rs7179178	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7179848	0.80[AFR][1000 genomes];0.94[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]
rs9806428	0.85[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	nsv904208	chr15:50428495-50457858	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50454200-50457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:50455000-50458600	Enhancers	Hela-S3	cervix
3	chr15:50455200-50457000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:50455200-50459000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:50455200-50459200	Enhancers	HMEC	breast
6	chr15:50455200-50459200	Enhancers	NHEK	skin
7	chr15:50455400-50456600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:50455400-50457600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:50455400-50457600	Enhancers	HepG2	liver
10	chr15:50455400-50457800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:50455400-50457800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:50455400-50461400	Enhancers	Liver	Liver
13	chr15:50455600-50457200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:50455600-50457600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:50456000-50456600	Enhancers	A549	lung
16	chr15:50456000-50456800	Weak transcription	NH-A	brain
17	chr15:50456200-50459200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr15:50456200-50460400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr15:50456400-50457600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:50456400-50457600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr15:50456400-50458000	Enhancers	NHLF	lung
22	chr15:50456400-50458200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:50456400-50459400	Enhancers	Osteobl	bone

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