Variant report

Variant	rs72967422
Chromosome Location	chr3:53157469-53157470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53143540..53146444-chr3:53154428..53158081,3	K562	blood:
2	chr3:53155385..53158103-chr3:53228552..53231241,3	K562	blood:
3	chr3:53156309..53158944-chr3:53161442..53163138,2	K562	blood:
4	chr3:53156517..53159649-chr3:53160824..53165429,5	K562	blood:

Variant related genes	Relation type
ENSG00000163933	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2581804	0.84[AFR][1000 genomes]
rs35221142	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60993884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967404	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590356	chr3:53134098-53170500	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv460553	chr3:53147576-53185061	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv590357	chr3:53147576-53185061	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53137400-53161600	Strong transcription	Fetal Intestine Small	intestine
2	chr3:53142800-53161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:53145000-53161400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr3:53145800-53161200	Strong transcription	Primary hematopoietic stem cells	blood
5	chr3:53147200-53160000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:53147600-53160800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr3:53148000-53163600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:53148200-53160000	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr3:53148200-53160000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr3:53148200-53160000	Strong transcription	Spleen	Spleen
11	chr3:53148200-53160600	Strong transcription	Fetal Intestine Large	intestine
12	chr3:53148200-53161000	Strong transcription	Fetal Thymus	thymus
13	chr3:53148400-53160000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:53148400-53160000	Strong transcription	Fetal Stomach	stomach
15	chr3:53148400-53160200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:53148400-53160400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr3:53148400-53160800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:53148400-53161000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:53148400-53161000	Strong transcription	Fetal Muscle Leg	muscle
20	chr3:53148400-53161200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:53148400-53161200	Strong transcription	Dnd41	blood
22	chr3:53148400-53161600	Strong transcription	Primary T cells from cord blood	blood
23	chr3:53148400-53163400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:53148600-53160200	Strong transcription	Brain Hippocampus Middle	brain
25	chr3:53148600-53160200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr3:53148600-53160400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:53148600-53160800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:53148600-53161200	Strong transcription	Liver	Liver
29	chr3:53148800-53160000	Strong transcription	Colon Smooth Muscle	Colon
30	chr3:53148800-53160200	Strong transcription	Fetal Lung	lung
31	chr3:53148800-53160400	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr3:53148800-53161200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr3:53149200-53160000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:53149200-53160400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:53149200-53161200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:53149400-53160000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:53149400-53160200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:53149400-53160200	Strong transcription	Fetal Brain Female	brain
39	chr3:53149400-53160400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:53149400-53160400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:53149600-53160000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr3:53149600-53161400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:53149600-53162400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:53150000-53161800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:53150600-53159800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:53150600-53160000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:53150800-53159800	Strong transcription	Brain Anterior Caudate	brain
48	chr3:53150800-53160000	Strong transcription	Brain Substantia Nigra	brain
49	chr3:53150800-53160400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:53150800-53160400	Strong transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links