Variant report

Variant	rs72913679
Chromosome Location	chr3:47142103-47142104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47117444..47119975-chr3:47141387..47143617,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1109497	0.89[AMR][1000 genomes]
rs17079336	0.89[AMR][1000 genomes]
rs58906143	1.00[AMR][1000 genomes]
rs60579303	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60811415	0.89[AMR][1000 genomes]
rs60949675	1.00[AMR][1000 genomes]
rs6442058	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6768374	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6772269	1.00[AMR][1000 genomes]
rs6809110	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72895783	1.00[AMR][1000 genomes]
rs72913651	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1002970	chr3:47120592-47170607	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47098800-47149600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:47101400-47147800	Strong transcription	Dnd41	blood
3	chr3:47110200-47150200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47110600-47148000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:47111000-47147600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:47112400-47153600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:47114600-47147800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:47115400-47147800	Strong transcription	Fetal Thymus	thymus
9	chr3:47117600-47148600	Strong transcription	Placenta	Placenta
10	chr3:47118200-47148600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:47118600-47143400	Weak transcription	Fetal Heart	heart
12	chr3:47122600-47143600	Weak transcription	Right Ventricle	heart
13	chr3:47123000-47159200	Weak transcription	Brain Substantia Nigra	brain
14	chr3:47124600-47154400	Weak transcription	Fetal Brain Male	brain
15	chr3:47125600-47154600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:47125800-47150000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:47125800-47153600	Weak transcription	Esophagus	oesophagus
18	chr3:47125800-47154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:47125800-47154600	Weak transcription	Gastric	stomach
20	chr3:47125800-47155000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr3:47126000-47153600	Weak transcription	Aorta	Aorta
22	chr3:47126400-47159800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr3:47126800-47168200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr3:47127000-47142800	Weak transcription	Brain Angular Gyrus	brain
25	chr3:47128400-47150400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:47129000-47143400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:47129400-47145800	Weak transcription	Lung	lung
28	chr3:47131800-47143000	Weak transcription	Stomach Mucosa	stomach
29	chr3:47131800-47145800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:47133200-47143400	Strong transcription	Liver	Liver
31	chr3:47133200-47148200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:47133600-47147800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:47134200-47147800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:47134400-47147800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:47134800-47147800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:47134800-47147800	Strong transcription	Adipose Nuclei	Adipose
37	chr3:47135000-47144200	Strong transcription	Fetal Muscle Leg	muscle
38	chr3:47135000-47158800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:47135200-47147600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr3:47135200-47147800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:47135200-47147800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:47135400-47142400	Strong transcription	HepG2	liver
43	chr3:47135600-47144400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:47135800-47144000	Strong transcription	Primary T cells from cord blood	blood
45	chr3:47135800-47147200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:47137000-47150000	Weak transcription	Ovary	ovary
47	chr3:47137400-47144200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr3:47137600-47147400	Strong transcription	Thymus	Thymus
49	chr3:47137800-47146000	Weak transcription	Hela-S3	cervix
50	chr3:47138200-47143000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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