Variant report

Variant	rs73486824
Chromosome Location	chr13:49105548-49105549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49105312..49106900-chr13:49113736..49116224,2	MCF-7	breast:
2	chr13:49102666..49106800-chr13:49108921..49111572,3	MCF-7	breast:
3	chr13:49096194..49098388-chr13:49103789..49106979,3	MCF-7	breast:
4	chr13:49088221..49089957-chr13:49104157..49106836,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs4151632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57800689	0.83[AFR][1000 genomes]
rs60240141	0.83[AFR][1000 genomes]
rs73479211	0.83[AFR][1000 genomes]
rs73479233	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486829	1.00[AMR][1000 genomes]
rs73486850	1.00[AMR][1000 genomes]
rs73486858	1.00[AMR][1000 genomes]
rs73486870	1.00[AMR][1000 genomes]
rs73491100	0.83[AFR][1000 genomes]
rs73492989	0.83[AFR][1000 genomes]
rs73492996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493007	0.83[AFR][1000 genomes]
rs73493010	0.83[AFR][1000 genomes]
rs73493016	0.83[AFR][1000 genomes]
rs73493018	0.83[AFR][1000 genomes]
rs73493070	0.83[AFR][1000 genomes]
rs73493076	0.83[AFR][1000 genomes]
rs73495021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73495107	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49068000-49105600	Weak transcription	Gastric	stomach
2	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
3	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:49080600-49105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:49081400-49105600	Weak transcription	Placenta	Placenta
6	chr13:49083800-49105600	Weak transcription	Esophagus	oesophagus
7	chr13:49085200-49105600	Weak transcription	Fetal Thymus	thymus
8	chr13:49086200-49105600	Weak transcription	Lung	lung
9	chr13:49086200-49105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr13:49086200-49105600	Weak transcription	HSMMtube	muscle
11	chr13:49086400-49105600	Weak transcription	Brain Germinal Matrix	brain
12	chr13:49086400-49105600	Weak transcription	HUVEC	blood vessel
13	chr13:49086400-49106200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:49086600-49105600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:49087400-49105600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:49089200-49105800	Weak transcription	Ovary	ovary
17	chr13:49089400-49105600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr13:49089600-49105600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr13:49090400-49105600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr13:49091400-49105600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:49091600-49105600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:49091600-49105600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr13:49092000-49105600	Weak transcription	Psoas Muscle	Psoas
24	chr13:49092600-49105600	Weak transcription	Fetal Stomach	stomach
25	chr13:49094800-49105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:49096200-49105600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:49096200-49105600	Weak transcription	Fetal Kidney	kidney
28	chr13:49096200-49105600	Weak transcription	Left Ventricle	heart
29	chr13:49101600-49105800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr13:49101800-49105600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr13:49101800-49105600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:49101800-49106600	Flanking Active TSS	GM12878-XiMat	blood
33	chr13:49102400-49105600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:49102400-49105600	Weak transcription	Aorta	Aorta
35	chr13:49102600-49105600	Weak transcription	Liver	Liver
36	chr13:49102600-49105600	Weak transcription	Brain Hippocampus Middle	brain
37	chr13:49102600-49105600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr13:49102600-49105600	Weak transcription	HepG2	liver
39	chr13:49102800-49105600	Weak transcription	Brain Substantia Nigra	brain
40	chr13:49102800-49105600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr13:49102800-49105600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr13:49103000-49105600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr13:49103000-49105600	Weak transcription	Stomach Mucosa	stomach
44	chr13:49103400-49105600	Weak transcription	NHDF-Ad	bronchial
45	chr13:49103600-49105800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr13:49104400-49105600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr13:49104400-49105800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr13:49104600-49105600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr13:49104600-49105600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:49104600-49105600	Enhancers	Dnd41	blood

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