Variant report

Variant	rs9568296
Chromosome Location	chr13:50224317-50224318
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	chr13:50217461..50219816-chr13:50222701..50225228,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12583804	1.00[AFR][1000 genomes]
rs12584707	1.00[AFR][1000 genomes]
rs34187122	1.00[AFR][1000 genomes]
rs57953027	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9568295	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv541772	chr13:50218255-50264414	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50202800-50233600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:50210600-50229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:50210600-50241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:50216800-50229800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:50217000-50230800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:50217000-50234000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:50217000-50236600	Weak transcription	Placenta	Placenta
8	chr13:50217000-50240000	Weak transcription	Spleen	Spleen
9	chr13:50217800-50231000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:50217800-50241000	Weak transcription	K562	blood
11	chr13:50218000-50225600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:50218400-50226000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr13:50220000-50233800	Weak transcription	Dnd41	blood
14	chr13:50220000-50235400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr13:50220000-50245400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr13:50220200-50234000	Weak transcription	Fetal Thymus	thymus
17	chr13:50220400-50230000	Weak transcription	Primary T cells from cord blood	blood
18	chr13:50221000-50234000	Weak transcription	Primary B cells from cord blood	blood
19	chr13:50221600-50236000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr13:50222800-50225200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:50222800-50236800	Weak transcription	Aorta	Aorta
22	chr13:50223000-50225000	Enhancers	NHLF	lung
23	chr13:50223400-50224600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:50223600-50224400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr13:50223600-50224400	Enhancers	Stomach Mucosa	stomach
26	chr13:50223600-50224600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:50223600-50224800	Enhancers	HSMMtube	muscle
28	chr13:50223600-50229800	Weak transcription	A549	lung
29	chr13:50223600-50230000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr13:50223600-50235200	Weak transcription	Pancreas	Pancrea
31	chr13:50223800-50226000	Weak transcription	Fetal Heart	heart
32	chr13:50223800-50230400	Weak transcription	Fetal Stomach	stomach
33	chr13:50224000-50224400	Enhancers	Gastric	stomach
34	chr13:50224000-50224400	Enhancers	Lung	lung
35	chr13:50224000-50224400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr13:50224000-50224600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr13:50224000-50224600	Enhancers	Osteobl	bone
38	chr13:50224000-50225200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr13:50224000-50226400	Enhancers	Psoas Muscle	Psoas
40	chr13:50224000-50228600	Enhancers	Fetal Muscle Leg	muscle
41	chr13:50224000-50233200	Weak transcription	Fetal Intestine Large	intestine
42	chr13:50224200-50224400	Enhancers	Right Ventricle	heart
43	chr13:50224200-50224600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:50224200-50239800	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links