Variant report

Variant	rs73132677
Chromosome Location	chr5:93913352-93913353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:93913200-93914080	GM12878	blood:	n/a	chr5:93913602-93913610 chr5:93913300-93913309
2	STAT3	chr5:93913346-93913388	GM12878	blood:	n/a	n/a
3	EP300	chr5:93913233-93914215	GM12878	blood:	n/a	chr5:93913602-93913610 chr5:93913300-93913309
4	MAZ	chr5:93913220-93913371	GM12878	blood:	n/a	n/a
5	RUNX3	chr5:93913253-93914042	GM12878	blood:	n/a	chr5:93913759-93913774 chr5:93913765-93913774 chr5:93913765-93913774
6	CUX1	chr5:93913200-93914042	GM12878	blood:	n/a	chr5:93913669-93913685 chr5:93913679-93913695
7	EP300	chr5:93913299-93913944	GM12878	blood:	n/a	chr5:93913602-93913610 chr5:93913300-93913309
8	EBF1	chr5:93913205-93913953	GM12878	blood:	n/a	n/a
9	RFX5	chr5:93913322-93913424	GM12878	blood:	n/a	n/a
10	RCOR1	chr5:93913089-93914000	GM12878	blood:	n/a	n/a
11	BHLHE40	chr5:93913118-93913918	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000211498	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1549180	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17327757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328137	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328296	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328331	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328400	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328434	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328525	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328588	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328637	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17387486	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56730205	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56813337	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57412880	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58306231	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58408645	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59077119	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60307858	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61141017	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61427096	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898151	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132656	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132681	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132682	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132683	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132688	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132701	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134681	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134683	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134687	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134693	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134696	0.87[EUR][1000 genomes]
rs73140270	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73140284	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73140285	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73144155	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144170	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73144175	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73144177	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73144193	0.86[EUR][1000 genomes]
rs73145094	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150143	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73150166	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv534495	chr5:93789736-93962131	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv598952	chr5:93823951-93956986	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93903000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:93908400-93916600	Weak transcription	Ovary	ovary
3	chr5:93908800-93914000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:93909000-93915800	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr5:93909200-93915200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:93909400-93913400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr5:93909400-93915400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:93909600-93915000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:93909800-93913400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:93909800-93914200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:93909800-93914400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:93909800-93918800	Weak transcription	Pancreas	Pancrea
13	chr5:93910400-93914200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:93910400-93914600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr5:93910600-93915000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:93911200-93914600	Enhancers	Primary T cells from cord blood	blood
17	chr5:93911200-93914800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:93911600-93913800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:93911800-93916800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:93911800-93916800	Weak transcription	NHEK	skin
21	chr5:93912400-93914600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:93913000-93913800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:93913000-93914200	Enhancers	Primary hematopoietic stem cells	blood
24	chr5:93913000-93914200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:93913000-93914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:93913000-93914600	Flanking Active TSS	GM12878-XiMat	blood
27	chr5:93913200-93913800	Enhancers	Primary B cells from cord blood	blood
28	chr5:93913200-93914200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:93913200-93914200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:93913200-93914400	Enhancers	Dnd41	blood
31	chr5:93913200-93914600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:93913200-93915000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr5:93913200-93915000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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