Variant report

Variant	rs2547919
Chromosome Location	chr5:58676245-58676246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:58514307..58514912-chr5:58675986..58677121,4	MCF-7	breast:
2	chr5:58484203..58484779-chr5:58676055..58676926,3	MCF-7	breast:
3	chr5:58484022..58484971-chr5:58675909..58676491,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10065206	0.85[AMR][1000 genomes]
rs10214073	0.83[AMR][1000 genomes]
rs12697177	0.90[ASN][1000 genomes]
rs13153653	0.90[ASN][1000 genomes]
rs1823066	0.89[ASN][1000 genomes]
rs1823067	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1823068	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028842	0.88[EUR][1000 genomes]
rs2059175	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs255812	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2591744	0.81[AMR][1000 genomes]
rs2591745	0.83[EUR][1000 genomes]
rs2591747	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2591751	0.83[AMR][1000 genomes]
rs2702365	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2702375	0.81[AMR][1000 genomes]
rs2702376	0.82[AMR][1000 genomes]
rs35288	0.93[ASN][1000 genomes]
rs35289	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6450517	0.85[ASN][1000 genomes]
rs6877927	0.93[ASN][1000 genomes]
rs7723695	0.94[ASN][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	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1022160	chr5:58645805-58689010	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv881705	chr5:58668669-58745872	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1034656	chr5:58674724-58755580	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv598253	chr5:58675538-58754510	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58666000-58681400	Weak transcription	Psoas Muscle	Psoas
2	chr5:58672200-58689200	Weak transcription	Fetal Brain Female	brain
3	chr5:58672800-58681600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:58673800-58677400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:58674800-58676800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:58675000-58677400	Weak transcription	Fetal Brain Male	brain
7	chr5:58675400-58681400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:58675800-58676800	Enhancers	Hela-S3	cervix
9	chr5:58676000-58676400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:58676000-58676400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:58676200-58676400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:58676200-58676400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:58676200-58676400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:58676200-58676400	Enhancers	Brain Angular Gyrus	brain
15	chr5:58676200-58676400	Enhancers	Fetal Kidney	kidney
16	chr5:58676200-58676400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:58676200-58676400	Flanking Active TSS	A549	lung
18	chr5:58676200-58676400	Flanking Active TSS	NH-A	brain
19	chr5:58676200-58676400	Enhancers	NHEK	skin
20	chr5:58676200-58676600	Enhancers	Fetal Heart	heart
21	chr5:58676200-58677000	Enhancers	Colon Smooth Muscle	Colon
22	chr5:58676200-58677000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:58676200-58677000	Enhancers	Fetal Lung	lung
24	chr5:58676200-58677000	Enhancers	Rectal Smooth Muscle	rectum
25	chr5:58676200-58678000	Enhancers	Fetal Intestine Small	intestine
26	chr5:58676200-58678200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:58676200-58678400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links