Variant report

Variant	rs13189047
Chromosome Location	chr5:177578875-177578876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177539791..177542194-chr5:177578689..177582162,4	K562	blood:
2	chr5:177502808..177503618-chr5:177578172..177579025,4	MCF-7	breast:
3	chr5:177539043..177545979-chr5:177577141..177584026,12	K562	blood:
4	chr12:120730631..120732795-chr5:177578874..177580699,2	MCF-7	breast:
5	chr5:177578534..177581104-chr5:177631476..177634038,2	MCF-7	breast:
6	chr5:177556214..177559808-chr5:177575521..177582645,10	K562	blood:
7	chr5:177502594..177503991-chr5:177578124..177579458,23	MCF-7	breast:
8	chr5:177578478..177582579-chr5:177629428..177633237,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145916	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000145911	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10035478	0.87[ASN][1000 genomes]
rs10074810	0.84[JPT][hapmap]
rs11948118	0.86[ASN][1000 genomes]
rs11952173	0.83[MEX][hapmap]
rs13185017	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13185763	0.82[ASN][1000 genomes]
rs13436876	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[ASN][1000 genomes]
rs34343747	0.82[ASN][1000 genomes]
rs34594900	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35027513	0.95[ASN][1000 genomes]
rs35433113	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35885458	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36087128	0.84[ASN][1000 genomes]
rs3812074	0.84[ASN][1000 genomes]
rs3812075	0.88[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs3812079	0.90[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.85[ASN][1000 genomes]
rs4549545	0.87[CEU][hapmap];0.97[GIH][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4637566	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs62392212	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6601217	0.85[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs6873523	0.82[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.84[MKK][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7379278	0.88[MEX][hapmap]
rs7380934	0.82[MEX][hapmap]
rs7447860	0.87[ASN][1000 genomes]
rs7448252	0.84[JPT][hapmap]
rs7701678	0.82[MEX][hapmap]
rs7716860	0.82[ASN][1000 genomes]
rs7732415	0.82[CHB][hapmap];0.82[MEX][hapmap];0.89[YRI][hapmap]

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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
4	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
5	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1017664	chr5:177578194-177633116	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177559000-177580000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:177559000-177580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:177559200-177579800	Weak transcription	Right Atrium	heart
4	chr5:177560200-177579400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:177560200-177579600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:177560200-177579800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:177560600-177579400	Strong transcription	Fetal Intestine Small	intestine
8	chr5:177560800-177579400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:177560800-177579600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:177561000-177579200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:177561000-177579400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:177561000-177579800	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr5:177561200-177579400	Strong transcription	Fetal Thymus	thymus
14	chr5:177567000-177579000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:177567400-177579000	Strong transcription	Fetal Brain Female	brain
16	chr5:177568200-177579400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr5:177568800-177579600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:177569000-177579000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:177569000-177579600	Strong transcription	Osteobl	bone
20	chr5:177569200-177579000	Strong transcription	Fetal Intestine Large	intestine
21	chr5:177569800-177579400	Strong transcription	NHDF-Ad	bronchial
22	chr5:177571400-177579000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:177572400-177579000	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr5:177572600-177579800	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr5:177572800-177579000	Strong transcription	Primary B cells from cord blood	blood
26	chr5:177572800-177579400	Strong transcription	NHLF	lung
27	chr5:177572800-177579600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:177573000-177579000	Strong transcription	HUVEC	blood vessel
29	chr5:177573000-177579200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:177573000-177579200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:177573200-177579000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:177573200-177579200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:177573200-177579400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:177573800-177579200	Strong transcription	Hela-S3	cervix
35	chr5:177574200-177579000	Strong transcription	Placenta	Placenta
36	chr5:177574200-177579200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:177574400-177579200	Strong transcription	NHEK	skin
38	chr5:177574600-177579400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:177575800-177579000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:177576000-177580000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:177576200-177579200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:177576200-177579200	Weak transcription	Small Intestine	intestine
43	chr5:177576200-177579800	Weak transcription	Fetal Kidney	kidney
44	chr5:177576400-177579000	Genic enhancers	Dnd41	blood
45	chr5:177576800-177579800	Genic enhancers	K562	blood
46	chr5:177577000-177579200	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr5:177577000-177579400	Genic enhancers	GM12878-XiMat	blood
48	chr5:177577200-177579000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:177577200-177579800	Weak transcription	Stomach Mucosa	stomach
50	chr5:177577400-177579800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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