Variant report

Variant	rs7992629
Chromosome Location	chr13:110747050-110747051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110742841..110744367-chr13:110745194..110747379,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11841329	1.00[EUR][1000 genomes]
rs16975290	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs521699	1.00[EUR][1000 genomes]
rs56294719	1.00[EUR][1000 genomes]
rs57652802	1.00[EUR][1000 genomes]
rs58702949	1.00[EUR][1000 genomes]
rs58824458	1.00[EUR][1000 genomes]
rs60015252	1.00[EUR][1000 genomes]
rs60279490	1.00[EUR][1000 genomes]
rs61661904	1.00[EUR][1000 genomes]
rs626680	1.00[EUR][1000 genomes]
rs645511	1.00[EUR][1000 genomes]
rs666338	1.00[EUR][1000 genomes]
rs7319834	1.00[EUR][1000 genomes]
rs7320392	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7326006	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7327695	1.00[EUR][1000 genomes]
rs7332823	1.00[EUR][1000 genomes]
rs7333839	1.00[EUR][1000 genomes]
rs7333840	1.00[EUR][1000 genomes]
rs7337040	1.00[EUR][1000 genomes]
rs73611449	1.00[EUR][1000 genomes]
rs73624503	1.00[EUR][1000 genomes]
rs73624510	1.00[EUR][1000 genomes]
rs73624516	1.00[EUR][1000 genomes]
rs73624520	1.00[EUR][1000 genomes]
rs73624531	1.00[EUR][1000 genomes]
rs7982044	1.00[EUR][1000 genomes]
rs7982267	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7983033	1.00[EUR][1000 genomes]
rs7983565	1.00[EUR][1000 genomes]
rs7984919	1.00[EUR][1000 genomes]
rs7992797	1.00[EUR][1000 genomes]
rs8000352	1.00[EUR][1000 genomes]
rs9301428	1.00[EUR][1000 genomes]
rs9301430	1.00[EUR][1000 genomes]
rs9583454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9583455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9583456	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9583457	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9583462	1.00[EUR][1000 genomes]
rs9588062	1.00[EUR][1000 genomes]
rs9588085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9588086	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9588087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9588099	1.00[EUR][1000 genomes]
rs9588106	1.00[EUR][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	esv3442659	chr13:110711145-110747162	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	esv3425970	chr13:110711165-110747132	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv563095	chr13:110724710-110761521	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901005	chr13:110733102-110766350	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv515849	chr13:110742197-110761521	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv456111	chr13:110742197-110761521	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv456112	chr13:110742197-110761521	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv456113	chr13:110742197-110761521	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv563096	chr13:110742197-110761521	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv563097	chr13:110742197-110766350	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv456114	chr13:110742919-110761521	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv563098	chr13:110742919-110761521	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110745200-110747400	Enhancers	Right Ventricle	heart
2	chr13:110745200-110747600	Enhancers	Rectal Smooth Muscle	rectum
3	chr13:110745200-110747800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:110745200-110747800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr13:110745200-110749000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:110745400-110747800	Enhancers	Right Atrium	heart
7	chr13:110745400-110749200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:110745600-110747200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:110745600-110748400	Enhancers	Pancreas	Pancrea
10	chr13:110745800-110748800	Enhancers	HMEC	breast
11	chr13:110746000-110747400	Enhancers	Brain Cingulate Gyrus	brain
12	chr13:110746000-110748400	Enhancers	Brain Substantia Nigra	brain
13	chr13:110746000-110749000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:110746200-110747200	Enhancers	Adipose Nuclei	Adipose
15	chr13:110746200-110747200	Enhancers	NHEK	skin
16	chr13:110746400-110747200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:110746400-110747200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:110746400-110747400	Enhancers	Brain Angular Gyrus	brain
19	chr13:110746400-110747600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:110746400-110747600	Enhancers	Brain Anterior Caudate	brain
21	chr13:110746400-110747600	Enhancers	Fetal Stomach	stomach
22	chr13:110746400-110747600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr13:110746400-110747600	Enhancers	HSMM	muscle
24	chr13:110746400-110747600	Enhancers	NH-A	brain
25	chr13:110746400-110747800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:110746400-110747800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:110746400-110747800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr13:110746400-110748400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr13:110746400-110748600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:110746600-110747400	Weak transcription	Psoas Muscle	Psoas
31	chr13:110746600-110747400	Enhancers	Stomach Mucosa	stomach
32	chr13:110746600-110747600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr13:110746600-110747600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr13:110746600-110747600	Enhancers	NHLF	lung
35	chr13:110746600-110747800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:110746600-110748000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr13:110746800-110747200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr13:110746800-110747200	Enhancers	Liver	Liver
39	chr13:110746800-110747400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:110746800-110747400	Enhancers	Fetal Muscle Trunk	muscle
41	chr13:110746800-110747400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr13:110746800-110747400	Flanking Active TSS	HepG2	liver
43	chr13:110746800-110747600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:110746800-110747600	Enhancers	Fetal Lung	lung
45	chr13:110746800-110747600	Enhancers	Placenta	Placenta
46	chr13:110746800-110747600	Enhancers	Dnd41	blood
47	chr13:110746800-110747600	Flanking Active TSS	Hela-S3	cervix
48	chr13:110746800-110747800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:110746800-110747800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:110747000-110747200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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