Variant report

Variant	rs55694114
Chromosome Location	chr1:47497472-47497473
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	KAP1	chr1:47496622-47497509	U2OS	brain:	n/a	n/a
2	FOS	chr1:47496748-47497514	HUVEC	blood vessel:	n/a	n/a
3	FOS	chr1:47496016-47497620	MCF10A-Er-Src	breast:	n/a	chr1:47496302-47496311 chr1:47496302-47496312 chr1:47496304-47496311 chr1:47496303-47496312 chr1:47496301-47496313 chr1:47496303-47496311 chr1:47496301-47496312
4	STAT3	chr1:47496207-47497510	MCF10A-Er-Src	breast:	n/a	chr1:47496302-47496311 chr1:47496303-47496312 chr1:47497332-47497340
5	STAT3	chr1:47495839-47497619	MCF10A-Er-Src	breast:	n/a	chr1:47496302-47496311 chr1:47496303-47496312 chr1:47497332-47497340
6	FOS	chr1:47495862-47497618	MCF10A-Er-Src	breast:	n/a	chr1:47496302-47496311 chr1:47496302-47496312 chr1:47496304-47496311 chr1:47496303-47496312 chr1:47496301-47496313 chr1:47496303-47496311 chr1:47496301-47496312
7	FOS	chr1:47497336-47497536	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:47496042-47497616	MCF10A-Er-Src	breast:	n/a	chr1:47496302-47496311 chr1:47496302-47496312 chr1:47496304-47496311 chr1:47496303-47496312 chr1:47496301-47496313 chr1:47496303-47496311 chr1:47496301-47496312

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47497049..47498622-chr1:47515812..47517726,2	MCF-7	breast:

Variant related genes	Relation type
CYP4X1	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11211420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211424	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211425	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211426	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11582907	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11584372	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11584400	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11588382	0.83[AMR][1000 genomes]
rs11589237	0.81[AMR][1000 genomes]
rs12041262	0.91[ASN][1000 genomes]
rs12402481	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12406683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12408055	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12408938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12564103	0.83[AMR][1000 genomes]
rs1502909	0.91[ASN][1000 genomes]
rs17102972	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17102977	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17102978	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1986925	0.90[ASN][1000 genomes]
rs2202221	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2202222	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2221324	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236332	0.81[AMR][1000 genomes]
rs2292059	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292060	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2897114	0.90[ASN][1000 genomes]
rs35322032	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3920100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4531326	0.81[AMR][1000 genomes]
rs59244133	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61165610	0.80[AMR][1000 genomes]
rs6668901	0.83[AMR][1000 genomes]
rs66753730	0.89[ASN][1000 genomes]
rs74073884	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74073885	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74074332	0.81[AMR][1000 genomes]
rs7549836	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9699826	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9699991	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9700422	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9701888	0.90[ASN][1000 genomes]
rs9793989	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871958	chr1:47350374-47517123	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1009338	chr1:47358532-47555253	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv870695	chr1:47363893-47502714	Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv871288	chr1:47363893-47507808	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871377	chr1:47363893-47517123	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv870674	chr1:47416441-47517123	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv871717	chr1:47449486-47524264	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv461428	chr1:47487585-47524264	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv546167	chr1:47487585-47524264	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv871080	chr1:47489786-47517123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47490400-47500400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:47490600-47498600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:47491000-47501600	Weak transcription	Gastric	stomach
4	chr1:47491600-47517200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:47494800-47497600	Enhancers	HUVEC	blood vessel
6	chr1:47495200-47497600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:47495200-47498600	Enhancers	HMEC	breast
8	chr1:47495200-47499000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:47495600-47497800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:47495800-47497600	Enhancers	Aorta	Aorta
11	chr1:47495800-47497600	Enhancers	Stomach Mucosa	stomach
12	chr1:47495800-47497800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:47495800-47498400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:47495800-47498600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:47496000-47497800	Enhancers	Pancreas	Pancrea
16	chr1:47496000-47498200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:47496000-47501200	Weak transcription	Brain Angular Gyrus	brain
18	chr1:47496400-47497800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:47496800-47497600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:47497000-47497600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr1:47497000-47498800	Enhancers	Hela-S3	cervix
22	chr1:47497200-47497600	Weak transcription	Lung	lung
23	chr1:47497200-47497600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr1:47497200-47497800	Enhancers	Esophagus	oesophagus
25	chr1:47497200-47498600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:47497400-47497600	Enhancers	Left Ventricle	heart
27	chr1:47497400-47498400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:47497400-47498800	Enhancers	NHEK	skin
29	chr1:47497400-47499600	Weak transcription	Adipose Nuclei	Adipose
30	chr1:47497400-47500400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:47497400-47512400	Weak transcription	Liver	Liver

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