Variant report

Variant	rs2581781
Chromosome Location	chr3:53060450-53060451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53047316..53051698-chr3:53056732..53062167,5	MCF-7	breast:
2	chr3:53058305..53064318-chr3:53075790..53081540,9	K562	blood:
3	chr3:53059584..53062030-chr3:53075790..53077753,2	K562	blood:
4	chr3:53060296..53062382-chr3:53075868..53077771,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163935	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12486028	1.00[AMR][1000 genomes]
rs12633559	1.00[AMR][1000 genomes]
rs13064076	1.00[AMR][1000 genomes]
rs1991567	1.00[AMR][1000 genomes]
rs2564925	1.00[AMR][1000 genomes]
rs2564927	1.00[AMR][1000 genomes]
rs2564946	1.00[AMR][1000 genomes]
rs2581814	1.00[AMR][1000 genomes]
rs2710315	1.00[AMR][1000 genomes]
rs2710327	1.00[AMR][1000 genomes]
rs4234640	1.00[AMR][1000 genomes]
rs55654539	1.00[AMR][1000 genomes]
rs58561805	1.00[AMR][1000 genomes]
rs59234300	1.00[AMR][1000 genomes]
rs72967414	1.00[AMR][1000 genomes]
rs7629350	1.00[AMR][1000 genomes]
rs9869545	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	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	nsv876799	chr3:53024216-53060637	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv590321	chr3:53027983-53062661	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53025600-53061600	Weak transcription	Lung	lung
2	chr3:53027600-53061600	Weak transcription	Liver	Liver
3	chr3:53033000-53078400	Weak transcription	Aorta	Aorta
4	chr3:53033800-53065000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:53037000-53065000	Weak transcription	Fetal Intestine Small	intestine
6	chr3:53040800-53065000	Weak transcription	Fetal Intestine Large	intestine
7	chr3:53043800-53064800	Weak transcription	Stomach Mucosa	stomach
8	chr3:53044600-53065000	Weak transcription	Gastric	stomach
9	chr3:53045200-53061400	Weak transcription	Fetal Heart	heart
10	chr3:53045400-53061600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:53045800-53061400	Weak transcription	HepG2	liver
12	chr3:53048800-53077800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:53050600-53062000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:53052000-53064800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:53053000-53063600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:53053800-53061600	Weak transcription	Ovary	ovary
17	chr3:53054000-53070600	Weak transcription	Right Ventricle	heart
18	chr3:53054400-53064800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr3:53055600-53060800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:53056600-53065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:53056600-53077800	Weak transcription	Fetal Stomach	stomach
22	chr3:53057400-53065000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:53057600-53061400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:53057800-53063600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:53057800-53063600	Weak transcription	Primary T cells from cord blood	blood
26	chr3:53057800-53063600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr3:53057800-53063800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:53057800-53064600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:53058000-53060600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:53058000-53061200	Weak transcription	HUVEC	blood vessel
31	chr3:53058000-53062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:53058200-53061600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:53058400-53061200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:53058600-53060600	Weak transcription	Left Ventricle	heart
35	chr3:53058600-53060800	Weak transcription	Psoas Muscle	Psoas
36	chr3:53058600-53061400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:53058600-53062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:53058600-53064800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr3:53059400-53060800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:53059400-53062200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:53059800-53060600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:53059800-53060800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:53059800-53060800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr3:53059800-53061000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:53059800-53061400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:53059800-53061800	Enhancers	A549	lung
47	chr3:53060000-53061000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:53060000-53061800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:53060000-53064800	Weak transcription	HMEC	breast
50	chr3:53060000-53065000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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