Variant report

Variant	rs4711073
Chromosome Location	chr6:25043359-25043360
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	PML	chr6:25042170-25043982	GM12878	blood:	n/a	n/a
2	SP1	chr6:25043251-25043580	GM12878	blood:	n/a	n/a
3	BATF	chr6:25043216-25043548	GM12878	blood:	n/a	n/a
4	MXI1	chr6:25043287-25043844	GM12878	blood:	n/a	n/a
5	BCLAF1	chr6:25043224-25043819	GM12878	blood:	n/a	chr6:25043758-25043767
6	RELA	chr6:25043278-25044182	GM18505	blood:	n/a	n/a
7	SPI1	chr6:25043288-25043513	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:25043120-25043764	GM12878	blood:	n/a	n/a
9	RELA	chr6:25042155-25043993	GM18951	blood:	n/a	n/a
10	NFIC	chr6:25041052-25044467	GM12878	blood:	n/a	n/a
11	FOXM1	chr6:25042741-25043826	GM12878	blood:	n/a	n/a
12	CHD1	chr6:25043255-25043568	GM12878	blood:	n/a	n/a
13	EP300	chr6:25043146-25044281	GM12878	blood:	n/a	n/a
14	BHLHE40	chr6:25043257-25043898	GM12878	blood:	n/a	n/a
15	MEF2C	chr6:25043326-25044093	GM12878	blood:	n/a	n/a
16	BCL3	chr6:25043238-25043636	GM12878	blood:	n/a	n/a
17	MAZ	chr6:25043291-25043916	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:25043139-25043745	GM12878	blood:	n/a	n/a
19	SPI1	chr6:25043233-25043549	GM12891	blood:	n/a	n/a
20	TBL1XR1	chr6:25043348-25044003	GM12878	blood:	n/a	n/a
21	CUX1	chr6:25043303-25043928	GM12878	blood:	n/a	chr6:25043718-25043727
22	RUNX3	chr6:25042723-25044045	GM12878	blood:	n/a	n/a
23	EP300	chr6:25043172-25043987	GM12878	blood:	n/a	n/a
24	MTA3	chr6:25043159-25043925	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:25042191-25043634	GM12878	blood:	n/a	n/a
26	POU2F2	chr6:25043256-25043573	GM12878	blood:	n/a	n/a
27	EBF1	chr6:25043251-25044243	GM12878	blood:	n/a	n/a
28	ZNF384	chr6:25042977-25043673	GM12878	blood:	n/a	n/a
29	RCOR1	chr6:25042944-25043748	GM12878	blood:	n/a	n/a
30	SPI1	chr6:25043178-25043863	GM12891	blood:	n/a	chr6:25043758-25043767
31	RELA	chr6:25043234-25043996	GM12878	blood:	n/a	n/a
32	TBP	chr6:25043178-25043967	GM12878	blood:	n/a	n/a
33	SP1	chr6:25043249-25043704	GM12878	blood:	n/a	n/a
34	MEF2A	chr6:25043197-25043930	GM12878	blood:	n/a	n/a
35	STAT3	chr6:25043332-25043694	GM12878	blood:	n/a	n/a
36	SPI1	chr6:25043235-25043629	GM12878	blood:	n/a	n/a
37	MTA3	chr6:25042787-25043959	GM12878	blood:	n/a	n/a
38	RUNX3	chr6:25043219-25043720	GM12878	blood:	n/a	n/a
39	EBF1	chr6:25043212-25043485	GM12878	blood:	n/a	n/a
40	CHD2	chr6:25043325-25043830	GM12878	blood:	n/a	n/a
41	SPI1	chr6:25043051-25043786	GM12878	blood:	n/a	chr6:25043758-25043767
42	WRNIP1	chr6:25043320-25044045	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25029897..25032330-chr6:25040931..25043429,2	K562	blood:

Variant related genes	Relation type
ENSG00000272053	TF binding region
FAM65B	TF binding region
ENSG00000244618	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12524842	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12525328	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12525405	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12528227	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12661796	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12663160	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12665174	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13195161	0.94[ASN][1000 genomes]
rs13196712	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13203073	0.86[ASN][1000 genomes]
rs13218879	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1562422	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1562423	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1597010	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1597011	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1597012	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs160034	0.86[ASN][1000 genomes]
rs1900551	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1923192	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1923193	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs192773	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2273671	1.00[YRI][hapmap]
rs302992	0.86[ASN][1000 genomes]
rs303879	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs303880	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs303884	0.86[ASN][1000 genomes]
rs34475409	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34693126	0.89[ASN][1000 genomes]
rs35028017	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35553146	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36030790	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792974	1.00[YRI][hapmap]
rs3792983	1.00[YRI][hapmap]
rs4711071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711072	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4712882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56108659	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67240854	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67795839	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7738141	1.00[YRI][hapmap]
rs895676	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9358827	0.94[JPT][hapmap]
rs9461093	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv830610	chr6:24951741-25124239	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv830611	chr6:25039374-25199112	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr6:25035200-25044600	Weak transcription	Right Atrium	heart
2	chr6:25039000-25043800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:25041800-25043400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:25041800-25044000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:25042200-25050200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:25042400-25043400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr6:25042400-25043400	Flanking Active TSS	Dnd41	blood
8	chr6:25042400-25044200	Flanking Active TSS	GM12878-XiMat	blood
9	chr6:25042800-25043400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:25042800-25043600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:25042800-25043800	Enhancers	Primary B cells from cord blood	blood
12	chr6:25042800-25043800	Enhancers	Fetal Thymus	thymus
13	chr6:25042800-25044200	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:25042800-25044400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:25042800-25044400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:25043000-25043600	Enhancers	Thymus	Thymus
17	chr6:25043000-25043800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:25043000-25043800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:25043000-25044200	Enhancers	Primary T cells from cord blood	blood
20	chr6:25043000-25044200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:25043000-25044400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:25043000-25044400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:25043000-25044400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:25043000-25044600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:25043000-25044600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:25043000-25044800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:25043000-25044800	Enhancers	Placenta	Placenta
28	chr6:25043200-25044000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr6:25043200-25044200	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:25043200-25044200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr6:25043200-25044400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr6:25043200-25044800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:25043200-25053400	Weak transcription	Spleen	Spleen

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