Variant report

Variant	rs16964053
Chromosome Location	chr15:51401330-51401331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr15:51400998-51401501	A549	lung:	n/a	chr15:51401462-51401488 chr15:51401243-51401257 chr15:51401243-51401257 chr15:51401237-51401263 chr15:51401237-51401263 chr15:51401462-51401488
2	MAFK	chr15:51400869-51401745	IMR90	lung:	n/a	chr15:51400890-51400904
3	POLR2A	chr15:51401187-51401453	ProgFib	skin:	n/a	n/a
4	NR3C1	chr15:51400973-51401415	A549	lung:	n/a	chr15:51401243-51401257 chr15:51401243-51401257 chr15:51401237-51401263 chr15:51401237-51401263
5	CEBPB	chr15:51401040-51401868	IMR90	lung:	n/a	n/a
6	MXI1	chr15:51400785-51402559	IMR90	lung:	n/a	n/a
7	RCOR1	chr15:51400995-51402510	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:51387979..51389847-chr15:51401200..51403539,2	K562	blood:
2	chr15:51367427..51369459-chr15:51400089..51401992,2	K562	blood:
3	chr15:51397401..51400420-chr15:51400982..51404135,4	MCF-7	breast:
4	chr15:51389501..51395749-chr15:51398298..51404476,6	K562	blood:
5	chr15:51398900..51403393-chr15:51403942..51409509,7	MCF-7	breast:
6	chr15:51397913..51400893-chr15:51401102..51403128,2	K562	blood:

Variant related genes	Relation type
TNFAIP8L3	TF binding region
ENSG00000183578	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16964051	0.85[YRI][hapmap]
rs16964061	0.83[AFR][1000 genomes]
rs28504625	0.86[AFR][1000 genomes]
rs7171413	1.00[AMR][1000 genomes]
rs8023502	1.00[AMR][1000 genomes]
rs876967	0.85[YRI][hapmap]
rs882299	0.86[YRI][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv428634	chr15:51299632-51446666	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 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	chr15:51397400-51402200	Weak transcription	Spleen	Spleen
2	chr15:51397400-51402400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:51397400-51403400	Weak transcription	Right Ventricle	heart
4	chr15:51398000-51402600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:51398600-51401400	Weak transcription	Fetal Stomach	stomach
6	chr15:51400000-51403800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:51400600-51401600	Enhancers	Fetal Heart	heart
8	chr15:51400800-51401400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:51400800-51402000	Enhancers	Fetal Lung	lung
10	chr15:51400800-51402400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr15:51401000-51401400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:51401000-51401400	Flanking Active TSS	NHDF-Ad	bronchial
13	chr15:51401000-51401600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:51401000-51401800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:51401000-51401800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:51401000-51401800	Enhancers	Brain Hippocampus Middle	brain
17	chr15:51401000-51402200	Enhancers	Right Atrium	heart
18	chr15:51401000-51402200	Flanking Active TSS	Osteobl	bone
19	chr15:51401000-51402400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:51401000-51402400	Enhancers	NHLF	lung
21	chr15:51401000-51402600	Enhancers	Aorta	Aorta
22	chr15:51401000-51402800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:51401000-51403400	Enhancers	NH-A	brain
24	chr15:51401200-51401400	Flanking Active TSS	HSMMtube	muscle
25	chr15:51401200-51401600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:51401200-51401600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:51401200-51401600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:51401200-51401600	Enhancers	Brain Angular Gyrus	brain
29	chr15:51401200-51401600	Enhancers	Brain Cingulate Gyrus	brain
30	chr15:51401200-51401600	Enhancers	Brain Substantia Nigra	brain
31	chr15:51401200-51401600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr15:51401200-51401600	Flanking Active TSS	HSMM	muscle
33	chr15:51401200-51401800	Enhancers	Ovary	ovary
34	chr15:51401200-51401800	Enhancers	NHEK	skin
35	chr15:51401200-51402400	Enhancers	Left Ventricle	heart
36	chr15:51401200-51402600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr15:51401200-51402600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:51401200-51402800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:51401200-51402800	Enhancers	HMEC	breast

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