Variant report

Variant	rs73393453
Chromosome Location	chr15:39697099-39697100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:39693251..39695685-chr15:39695839..39698387,3	K562	blood:
2	chr15:39693251..39695685-chr15:39695839..39697787,2	K562	blood:
3	chr15:39693671..39697771-chr15:39871894..39873705,4	MCF-7	breast:
4	chr15:39696668..39698687-chr15:39702884..39705384,2	MCF-7	breast:
5	chr15:39471065..39473001-chr15:39694678..39697568,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137801	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59340114	1.00[AFR][1000 genomes]
rs60221635	0.83[AFR][1000 genomes]
rs73393482	0.96[AFR][1000 genomes]
rs73393483	0.88[AFR][1000 genomes]
rs73395350	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1042824	chr15:39676039-39757222	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv542362	chr15:39676039-39757222	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1047032	chr15:39679896-39706685	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1052908	chr15:39692049-39750193	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1044082	chr15:39693241-39750193	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39695200-39698000	Enhancers	Osteobl	bone
2	chr15:39695200-39699000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:39695400-39697200	Enhancers	Fetal Lung	lung
4	chr15:39695400-39697600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr15:39695400-39698000	Enhancers	Hela-S3	cervix
6	chr15:39695400-39698000	Enhancers	K562	blood
7	chr15:39695400-39698800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:39695400-39699600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr15:39695400-39700400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:39695400-39700400	Enhancers	NHDF-Ad	bronchial
11	chr15:39695600-39697400	Enhancers	HUVEC	blood vessel
12	chr15:39695600-39697600	Enhancers	HSMM	muscle
13	chr15:39695600-39697600	Enhancers	NH-A	brain
14	chr15:39695600-39698000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:39695600-39698000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:39695600-39698200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:39695600-39698600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:39695600-39698800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:39695600-39699000	Enhancers	HMEC	breast
20	chr15:39695600-39700000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:39695600-39700000	Enhancers	NHLF	lung
22	chr15:39695800-39697600	Enhancers	HSMMtube	muscle
23	chr15:39695800-39698000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:39695800-39698600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:39695800-39699000	Enhancers	NHEK	skin
26	chr15:39696000-39697400	Enhancers	Right Atrium	heart
27	chr15:39696000-39697400	Flanking Active TSS	A549	lung
28	chr15:39696000-39697600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:39696000-39697600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr15:39696000-39697600	Enhancers	Placenta	Placenta
31	chr15:39696000-39698000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:39696200-39697200	Flanking Active TSS	Fetal Heart	heart
33	chr15:39696400-39697600	Enhancers	Right Ventricle	heart
34	chr15:39696600-39697600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr15:39696800-39697600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:39697000-39697200	Enhancers	Lung	lung
37	chr15:39697000-39697400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:39697000-39697600	Enhancers	Left Ventricle	heart
39	chr15:39697000-39699600	Weak transcription	Fetal Stomach	stomach

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