Variant report

Variant	rs72986428
Chromosome Location	chr3:133964583-133964584
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	chr3:133946454..133948337-chr3:133962958..133965127,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs4613428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57032924	0.86[AFR][1000 genomes]
rs59757921	1.00[AMR][1000 genomes]
rs61387165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6767331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6771052	0.92[AFR][1000 genomes]
rs6792002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72984466	0.86[AFR][1000 genomes]
rs72984483	0.92[AFR][1000 genomes]
rs72984488	0.86[AFR][1000 genomes]
rs72984501	0.94[AFR][1000 genomes]
rs72986403	0.94[AFR][1000 genomes]
rs72986405	0.97[AFR][1000 genomes]
rs72986432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv1794616	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
4	esv1798974	chr3:133949713-133973731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1802675	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1815799	chr3:133949713-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv1819695	chr3:133949713-133973731	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1822126	chr3:133949713-133973731	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv1839030	chr3:133949713-133973731	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1799165	chr3:133959746-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803106	chr3:133959746-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133930200-133968000	Weak transcription	Fetal Kidney	kidney
2	chr3:133941400-133967400	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:133951200-133966800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:133952200-133965400	Weak transcription	Dnd41	blood
5	chr3:133953200-133967800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr3:133953400-133966800	Weak transcription	Brain Angular Gyrus	brain
7	chr3:133956400-133964800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:133957200-133964600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:133957600-133967000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:133957600-133968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:133957600-133968000	Weak transcription	Fetal Stomach	stomach
12	chr3:133958400-133966800	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:133958800-133966800	Weak transcription	Gastric	stomach
14	chr3:133958800-133967200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:133958800-133967800	Weak transcription	Stomach Mucosa	stomach
16	chr3:133958800-133968200	Weak transcription	Brain Substantia Nigra	brain
17	chr3:133959000-133967600	Weak transcription	GM12878-XiMat	blood
18	chr3:133959000-133968200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:133959000-133968800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:133959200-133967800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:133959400-133964800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr3:133959600-133967800	Enhancers	HepG2	liver
23	chr3:133960000-133966800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:133960600-133965200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:133961000-133964800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:133961400-133964600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:133961400-133964600	Enhancers	Fetal Heart	heart
28	chr3:133961400-133964800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:133961600-133964600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:133961600-133964600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:133961600-133964600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:133961600-133964800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr3:133961600-133964800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:133961600-133965800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr3:133961800-133964800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:133961800-133966000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:133962000-133964800	Enhancers	HMEC	breast
38	chr3:133962000-133966800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:133962000-133967000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:133962000-133967600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:133962000-133968200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:133962200-133964600	Genic enhancers	NHEK	skin
43	chr3:133962200-133964800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:133962200-133964800	Enhancers	Hela-S3	cervix
45	chr3:133962200-133965400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr3:133962200-133967000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:133962200-133967000	Weak transcription	Fetal Brain Female	brain
48	chr3:133962200-133967600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr3:133962200-133967600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:133962400-133964600	Weak transcription	Thymus	Thymus

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