Variant report

Variant	rs7579477
Chromosome Location	chr2:20486117-20486118
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20484550..20486934-chr2:20490044..20492996,3	MCF-7	breast:
2	chr2:20482981..20486539-chr2:20487663..20489842,4	MCF-7	breast:
3	chr2:20478789..20484582-chr2:20484927..20489294,7	K562	blood:
4	chr2:20421775..20427916-chr2:20486064..20491550,11	MCF-7	breast:
5	chr2:20484989..20487523-chr2:20496339..20498014,2	K562	blood:

Variant related genes	Relation type
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11096656	1.00[ASW][hapmap]
rs6531231	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs719148	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524207	chr2:20448561-20503436	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999153	chr2:20467929-20521954	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20442000-20491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:20444400-20489000	Weak transcription	Stomach Mucosa	stomach
3	chr2:20454200-20488800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:20454200-20490800	Weak transcription	Right Ventricle	heart
5	chr2:20454200-20491000	Weak transcription	Gastric	stomach
6	chr2:20454200-20491000	Weak transcription	Spleen	Spleen
7	chr2:20454200-20499600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:20456400-20488800	Weak transcription	Small Intestine	intestine
9	chr2:20458000-20491000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:20460200-20528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:20465600-20500400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
13	chr2:20467000-20522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:20467200-20526200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:20467600-20490600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:20467800-20491400	Weak transcription	Lung	lung
17	chr2:20469600-20486400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:20471800-20522600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:20471800-20533800	Strong transcription	Dnd41	blood
20	chr2:20472000-20491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:20474600-20528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:20474800-20487000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:20475400-20486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:20475400-20522400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:20476200-20514400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:20476400-20488000	Strong transcription	A549	lung
27	chr2:20476400-20488000	Strong transcription	Hela-S3	cervix
28	chr2:20476400-20491000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:20476400-20492800	Strong transcription	GM12878-XiMat	blood
30	chr2:20476400-20500000	Strong transcription	Placenta	Placenta
31	chr2:20476400-20521000	Strong transcription	Fetal Intestine Large	intestine
32	chr2:20476600-20486400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:20476600-20487400	Strong transcription	Liver	Liver
34	chr2:20476600-20490600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:20476600-20490600	Strong transcription	Primary hematopoietic stem cells	blood
36	chr2:20476600-20492000	Strong transcription	Primary B cells from cord blood	blood
37	chr2:20476600-20500600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:20476600-20516400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:20476600-20524800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:20476600-20526600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:20476800-20487800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:20476800-20488400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:20476800-20490400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:20476800-20491000	Strong transcription	HepG2	liver
45	chr2:20476800-20516800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:20477800-20486600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:20478200-20486400	Strong transcription	Primary T cells from cord blood	blood
48	chr2:20478600-20516600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:20479800-20488200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:20480000-20491000	Weak transcription	Fetal Heart	heart

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