Variant report

Variant	rs58461706
Chromosome Location	chr16:31743530-31743531
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31723262..31725200-chr16:31741189..31743578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197302	Chromatin interaction
ENSG00000261731	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1354994	1.00[AMR][1000 genomes]
rs1395526	1.00[AMR][1000 genomes]
rs1876507	1.00[AMR][1000 genomes]
rs3905907	1.00[AMR][1000 genomes]
rs3913869	1.00[AMR][1000 genomes]
rs4889561	1.00[AMR][1000 genomes]
rs55771542	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55801950	1.00[AMR][1000 genomes]
rs56007329	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56279146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61467517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565292	1.00[AMR][1000 genomes]
rs7193710	1.00[AMR][1000 genomes]
rs74015561	1.00[AMR][1000 genomes]
rs74017509	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017517	1.00[AMR][1000 genomes]
rs74017519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017525	0.86[AFR][1000 genomes]
rs74017527	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017528	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017534	1.00[AMR][1000 genomes]
rs8044900	1.00[AMR][1000 genomes]
rs8047836	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049984	1.00[AMR][1000 genomes]
rs8050055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050193	1.00[AMR][1000 genomes]
rs8050428	1.00[AMR][1000 genomes]
rs8050437	1.00[AMR][1000 genomes]
rs8052997	1.00[AMR][1000 genomes]
rs8055446	1.00[AMR][1000 genomes]
rs8057397	1.00[AMR][1000 genomes]
rs8062868	1.00[AMR][1000 genomes]
rs9928474	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv905761	chr16:31730525-31812442	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv3446880	chr16:31734687-31891223	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31725800-31753400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:31726000-31747400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:31726200-31745600	Weak transcription	Colonic Mucosa	Colon
4	chr16:31726400-31750000	Weak transcription	HUVEC	blood vessel
5	chr16:31726400-31750800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:31726600-31744000	Weak transcription	K562	blood
7	chr16:31726600-31748600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:31727000-31745000	Weak transcription	HMEC	breast
9	chr16:31727200-31758800	Weak transcription	Fetal Thymus	thymus
10	chr16:31727200-31760000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr16:31727600-31758400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:31727800-31744800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:31727800-31748400	Weak transcription	HSMMtube	muscle
14	chr16:31728000-31752200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr16:31730000-31758200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:31730200-31751000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:31731600-31748200	Weak transcription	Right Ventricle	heart
18	chr16:31733000-31743600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:31733600-31743800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr16:31735000-31748200	Weak transcription	Osteobl	bone
21	chr16:31735200-31751000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:31736600-31743600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:31736800-31743600	Strong transcription	HepG2	liver
24	chr16:31738400-31743600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:31738600-31743600	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr16:31738800-31745600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:31738800-31758200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:31739000-31743600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr16:31739000-31754600	ZNF genes & repeats	Liver	Liver
30	chr16:31739200-31743600	ZNF genes & repeats	Fetal Lung	lung
31	chr16:31739400-31743800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr16:31740200-31743600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr16:31740400-31743800	ZNF genes & repeats	GM12878-XiMat	blood
34	chr16:31740400-31744000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:31740600-31743800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr16:31740600-31744000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr16:31740800-31745200	Weak transcription	NHDF-Ad	bronchial
38	chr16:31740800-31751000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:31741200-31743600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:31741400-31743800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr16:31741600-31744600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:31741800-31743800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr16:31742000-31743600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr16:31742000-31743600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr16:31742000-31743600	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr16:31742000-31743600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr16:31742000-31744000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr16:31742200-31743600	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr16:31742200-31744200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:31742400-31743600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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