Variant report

Variant	rs72965362
Chromosome Location	chr3:53065245-53065246
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	chr3:53061590..53065851-chr3:53079689..53082481,4	K562	blood:
2	chr3:53064347..53066735-chr3:53078484..53080283,2	K562	blood:

Variant related genes	Relation type
ENSG00000163935	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs28696085	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28719645	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3806693	1.00[ASN][1000 genomes]
rs55794978	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55885034	1.00[ASN][1000 genomes]
rs56835905	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57940327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58309671	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58840385	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59224641	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59515578	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60648378	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60744886	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61285888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61297461	0.86[AFR][1000 genomes]
rs61437303	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61438885	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965343	0.85[AFR][1000 genomes]
rs72965345	1.00[ASN][1000 genomes]
rs72965350	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965354	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965361	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965366	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965381	0.84[ASN][1000 genomes]
rs7628501	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7631487	1.00[ASN][1000 genomes]
rs9819608	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9822686	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9852646	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1823728	chr3:53046712-53080351	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv822094	chr3:53059674-53096460	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53033000-53078400	Weak transcription	Aorta	Aorta
2	chr3:53048800-53077800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:53054000-53070600	Weak transcription	Right Ventricle	heart
4	chr3:53056600-53077800	Weak transcription	Fetal Stomach	stomach
5	chr3:53060000-53066000	Weak transcription	Right Atrium	heart
6	chr3:53061800-53070000	Weak transcription	Psoas Muscle	Psoas
7	chr3:53061800-53070800	Weak transcription	Left Ventricle	heart
8	chr3:53061800-53074400	Weak transcription	Osteobl	bone
9	chr3:53062200-53074400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:53062200-53076800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:53062200-53077000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:53062400-53071000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:53062600-53066400	Weak transcription	HepG2	liver
14	chr3:53063200-53065600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:53063200-53066000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:53063200-53067000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:53063400-53065800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:53063400-53067000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:53063600-53066800	Enhancers	Primary T cells from cord blood	blood
20	chr3:53063600-53066800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr3:53063600-53067800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:53063800-53066800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:53064000-53078400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:53064600-53065400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:53064600-53065600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:53064600-53065800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr3:53064800-53065400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:53064800-53065400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr3:53064800-53065400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:53064800-53065400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:53064800-53065400	Enhancers	Duodenum Mucosa	Duodenum
32	chr3:53064800-53065600	Enhancers	HMEC	breast
33	chr3:53064800-53065800	Enhancers	Primary B cells from cord blood	blood
34	chr3:53064800-53066200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:53064800-53066200	Enhancers	Primary B cells from peripheral blood	blood
36	chr3:53064800-53066400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr3:53065000-53065400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr3:53065000-53065400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:53065000-53065400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:53065000-53065400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:53065000-53065400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr3:53065000-53065400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr3:53065000-53065400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:53065000-53065400	Enhancers	Liver	Liver
45	chr3:53065000-53065400	Enhancers	Esophagus	oesophagus
46	chr3:53065000-53065400	Enhancers	Fetal Intestine Large	intestine
47	chr3:53065000-53065400	Enhancers	Fetal Thymus	thymus
48	chr3:53065000-53065400	Enhancers	Gastric	stomach
49	chr3:53065000-53065400	Enhancers	Lung	lung
50	chr3:53065000-53065400	Enhancers	Rectal Mucosa Donor 31	rectum

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