Variant report

Variant	rs6493413
Chromosome Location	chr15:50457735-50457736
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	chr15:50456856..50459058-chr15:50459344..50460861,2	K562	blood:

Variant related genes	Relation type
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11070759	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11637945	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12591392	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12913072	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2414030	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2414031	0.98[ASN][1000 genomes]
rs2414032	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4775866	0.89[ASN][1000 genomes]
rs57187078	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59983467	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7174037	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7179178	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7179848	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50455000-50458600	Enhancers	Hela-S3	cervix
2	chr15:50455200-50459000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:50455200-50459200	Enhancers	HMEC	breast
4	chr15:50455200-50459200	Enhancers	NHEK	skin
5	chr15:50455400-50457800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:50455400-50457800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:50455400-50461400	Enhancers	Liver	Liver
8	chr15:50456200-50459200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr15:50456200-50460400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:50456400-50458000	Enhancers	NHLF	lung
11	chr15:50456400-50458200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:50456400-50459400	Enhancers	Osteobl	bone
13	chr15:50456600-50458600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:50456600-50459200	Enhancers	NHDF-Ad	bronchial
15	chr15:50457000-50457800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:50457000-50458600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:50457200-50458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:50457400-50459200	Enhancers	NH-A	brain
19	chr15:50457600-50457800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:50457600-50458000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:50457600-50458600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:50457600-50458800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:50457600-50458800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr15:50457600-50459000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:50457600-50459200	Flanking Active TSS	A549	lung
26	chr15:50457600-50459200	Weak transcription	HepG2	liver
27	chr15:50457600-50459800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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