Variant report

Variant	rs61995545
Chromosome Location	chr14:20809887-20809888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:20809841-20810193	K562	blood:	n/a	chr14:20810010-20810021
2	CEBPB	chr14:20809834-20810172	Hela-S3	cervix:	n/a	chr14:20810010-20810021
3	EP300	chr14:20809769-20810011	GM12878	blood:	n/a	chr14:20809963-20809970 chr14:20809934-20809943
4	CEBPB	chr14:20809864-20810144	HepG2	liver:	n/a	chr14:20810010-20810021

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20808367..20810653-chr14:20924028..20926387,4	K562	blood:
2	chr14:20809730..20812813-chr14:21079988..21085543,7	MCF-7	breast:
3	chr14:20774140..20775643-chr14:20808067..20810191,2	K562	blood:
4	chr14:20809796..20812159-chr14:20938616..20940999,3	MCF-7	breast:
5	chr14:20809589..20811753-chr14:20819736..20822429,2	MCF-7	breast:
6	chr14:20809095..20813799-chr14:21074403..21078570,5	MCF-7	breast:
7	chr14:20807684..20813516-chr14:20919958..20928823,14	K562	blood:
8	chr14:20792687..20795168-chr14:20809070..20811262,2	K562	blood:
9	chr14:20808270..20815666-chr14:20919802..20926735,19	MCF-7	breast:
10	chr14:20792855..20795465-chr14:20809576..20811625,4	MCF-7	breast:
11	chr14:20809378..20813101-chr14:20879937..20884504,11	MCF-7	breast:
12	chr14:20809810..20811515-chr14:20846784..20849983,4	MCF-7	breast:
13	chr14:20809861..20811431-chr14:20813629..20815213,2	MCF-7	breast:
14	chr14:20809818..20812962-chr14:20928607..20931811,3	K562	blood:
15	chr14:20809769..20811935-chr14:20871300..20873011,2	MCF-7	breast:
16	chr11:75676550..75678071-chr14:20809872..20811501,5	MCF-7	breast:
17	chr14:20809761..20813005-chr14:20927609..20931720,11	MCF-7	breast:

No data

Variant related genes	Relation type
PARP2	TF binding region
ENSG00000254846	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000200225	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000136319	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000239327	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000238344	Chromatin interaction
ENSG00000173464	Chromatin interaction
ENSG00000100823	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1953550	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2002245	0.81[AMR][1000 genomes]
rs2318863	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3093868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093871	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093878	0.83[EUR][1000 genomes]
rs3093883	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093894	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093926	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45583431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs45622542	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56383558	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58959974	1.00[ASN][1000 genomes]
rs60052229	1.00[ASN][1000 genomes]
rs61993950	1.00[AFR][1000 genomes]
rs61993951	1.00[AFR][1000 genomes]
rs61993952	1.00[AFR][1000 genomes]
rs61993953	1.00[AFR][1000 genomes]
rs61993956	1.00[AFR][1000 genomes]
rs61993957	1.00[AFR][1000 genomes]
rs61993958	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61993959	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995461	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995462	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995463	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995493	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995494	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995495	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995497	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995498	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995500	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995510	0.94[AMR][1000 genomes]
rs61995513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995538	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61995540	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995546	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671246	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72671250	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73585150	1.00[ASN][1000 genomes]
rs8010392	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20802000-20810400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr14:20802400-20810400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:20809600-20810000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:20809600-20810000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:20809600-20810000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:20809600-20810000	Enhancers	Liver	Liver
7	chr14:20809600-20810000	Enhancers	Dnd41	blood
8	chr14:20809600-20810000	Enhancers	GM12878-XiMat	blood
9	chr14:20809600-20810000	Enhancers	Hela-S3	cervix
10	chr14:20809600-20810000	Enhancers	HUVEC	blood vessel
11	chr14:20809600-20810000	Enhancers	NHLF	lung
12	chr14:20809600-20810400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:20809600-20810400	Active TSS	HepG2	liver
14	chr14:20809600-20813000	Active TSS	K562	blood
15	chr14:20809800-20810000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:20809800-20810000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:20809800-20810000	Flanking Active TSS	A549	lung
18	chr14:20809800-20810200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr14:20809800-20810200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:20809800-20810200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr14:20809800-20810400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr14:20809800-20812200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:20809800-20812400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:20809800-20812600	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr14:20809800-20812800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:20809800-20812800	Active TSS	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links