Variant report

Variant	rs72888558
Chromosome Location	chr2:47220341-47220342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47217963..47220771-chr2:47222699..47225173,3	MCF-7	breast:
2	chr2:47217582..47220459-chr2:47397883..47399743,2	MCF-7	breast:
3	chr2:47167911..47170822-chr2:47219140..47220893,2	K562	blood:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17481321	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17481349	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17540003	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17540184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17540504	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35597921	0.88[AMR][1000 genomes]
rs55633663	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57770875	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60866910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739148	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72872910	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72888535	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS 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	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv581750	chr2:47207665-47229953	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv517929	chr2:47217094-47243312	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47196600-47227800	Strong transcription	Dnd41	blood
2	chr2:47213000-47221600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:47214200-47221000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:47214200-47221200	Weak transcription	Small Intestine	intestine
7	chr2:47214200-47221600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:47214200-47221600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:47214200-47231000	Weak transcription	K562	blood
10	chr2:47214200-47235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:47214600-47220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:47214600-47221200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:47214600-47221600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:47214600-47242000	Strong transcription	Thymus	Thymus
15	chr2:47214800-47221600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:47214800-47221600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:47214800-47228600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:47214800-47229000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:47214800-47229400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:47214800-47229600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:47214800-47230400	Strong transcription	Osteobl	bone
22	chr2:47214800-47231200	Weak transcription	HUVEC	blood vessel
23	chr2:47214800-47233400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:47214800-47237200	Strong transcription	Primary T cells from cord blood	blood
25	chr2:47214800-47239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:47215000-47224200	Strong transcription	GM12878-XiMat	blood
27	chr2:47215000-47227200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:47215200-47220800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:47215200-47221800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:47215200-47227800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:47215400-47227000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:47215400-47235800	Strong transcription	Primary B cells from cord blood	blood
34	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:47215800-47221600	Weak transcription	Fetal Kidney	kidney
36	chr2:47216200-47227200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:47216400-47220400	Weak transcription	Gastric	stomach
38	chr2:47216400-47220800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:47216400-47223200	Weak transcription	Psoas Muscle	Psoas
40	chr2:47216400-47228800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:47216400-47241600	Strong transcription	Fetal Thymus	thymus
42	chr2:47216600-47221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:47216600-47221200	Weak transcription	HSMMtube	muscle
44	chr2:47216600-47227400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:47216600-47229000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:47216600-47229400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:47216800-47228600	Strong transcription	Fetal Intestine Small	intestine
48	chr2:47217000-47226000	Strong transcription	NHEK	skin
49	chr2:47217000-47228000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:47217200-47221400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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