Variant report

Variant	rs9886220
Chromosome Location	chr7:86736800-86736801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr7:86736526-86737328	K562	blood:	n/a	n/a
2	HCFC1	chr7:86736542-86736956	K562	blood:	n/a	n/a
3	EP300	chr7:86736451-86736909	K562	blood:	n/a	n/a
4	TRIM28	chr7:86736470-86736957	K562	blood:	n/a	n/a
5	ZMIZ1	chr7:86736399-86736875	K562	blood:	n/a	n/a
6	IRF1	chr7:86736355-86736946	K562	blood:	n/a	n/a
7	KAP1	chr7:86736236-86737402	K562	blood:	n/a	n/a
8	STAT5A	chr7:86736424-86736963	K562	blood:	n/a	n/a
9	TBL1XR1	chr7:86736576-86736880	K562	blood:	n/a	n/a
10	TEAD4	chr7:86736458-86736990	K562	blood:	n/a	n/a
11	CBX3	chr7:86736285-86736916	K562	blood:	n/a	n/a
12	RCOR1	chr7:86736396-86738215	K562	blood:	n/a	n/a
13	HMGN3	chr7:86736576-86736870	K562	blood:	n/a	n/a
14	EP300	chr7:86736085-86737135	K562	blood:	n/a	n/a
15	STAT5A	chr7:86736557-86736904	K562	blood:	n/a	n/a
16	TBL1XR1	chr7:86736310-86737014	K562	blood:	n/a	n/a
17	MAZ	chr7:86736526-86737082	K562	blood:	n/a	chr7:86736591-86736599
18	ATF1	chr7:86736557-86736891	K562	blood:	n/a	n/a
19	MAX	chr7:86736565-86736958	K562	blood:	n/a	chr7:86736591-86736599
20	NR2F2	chr7:86736510-86736942	K562	blood:	n/a	n/a
21	MAFK	chr7:86736523-86737011	K562	blood:	n/a	n/a
22	BHLHE40	chr7:86736379-86736848	K562	blood:	n/a	n/a
23	RCOR1	chr7:86736480-86736992	K562	blood:	n/a	n/a
24	CUX1	chr7:86736526-86737180	K562	blood:	n/a	n/a
25	ELF1	chr7:86736583-86736846	K562	blood:	n/a	n/a
26	IRF1	chr7:86736134-86737140	K562	blood:	n/a	chr7:86736271-86736283
27	NR2F2	chr7:86736435-86737046	K562	blood:	n/a	n/a
28	CEBPD	chr7:86736194-86736891	K562	blood:	n/a	n/a
29	JUND	chr7:86736407-86738196	K562	blood:	n/a	chr7:86737476-86737486 chr7:86737695-86737706 chr7:86736837-86736844 chr7:86737730-86737739
30	GATA2	chr7:86736423-86736914	K562	blood:	n/a	n/a
31	JUN	chr7:86736527-86736881	K562	blood:	n/a	chr7:86736837-86736844
32	UBTF	chr7:86736604-86736835	K562	blood:	n/a	n/a
33	TAL1	chr7:86736539-86736946	K562	blood:	n/a	n/a
34	EGR1	chr7:86736522-86736868	K562	blood:	n/a	n/a
35	CCNT2	chr7:86736568-86736944	K562	blood:	n/a	n/a
36	MAFF	chr7:86736536-86737089	K562	blood:	n/a	n/a
37	MYC	chr7:86736462-86737112	K562	blood:	n/a	chr7:86736591-86736599
38	TEAD4	chr7:86736323-86737303	K562	blood:	n/a	n/a
39	TBP	chr7:86736668-86736812	K562	blood:	n/a	n/a
40	ARID3A	chr7:86735687-86736939	K562	blood:	n/a	n/a
41	CEBPB	chr7:86736579-86736855	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86736144..86740329-chr7:86781903..86788552,7	K562	blood:
2	chr7:86730153..86732657-chr7:86734174..86736967,2	K562	blood:
3	chr7:86735742..86738656-chr7:86781350..86784765,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261462	TF binding region
ENSG00000224046	Chromatin interaction
ENSG00000135164	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10252463	0.93[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983408	1.00[ASN][1000 genomes]
rs12704349	1.00[ASN][1000 genomes]
rs13226884	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237709	1.00[ASN][1000 genomes]
rs13311971	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859123	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859129	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34308465	1.00[ASN][1000 genomes]
rs34445127	1.00[ASN][1000 genomes]
rs35205756	1.00[ASN][1000 genomes]
rs35425179	1.00[ASN][1000 genomes]
rs56024721	1.00[ASN][1000 genomes]
rs56123613	1.00[ASN][1000 genomes]
rs66523328	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66948035	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67007977	1.00[ASN][1000 genomes]
rs67558005	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950665	1.00[ASN][1000 genomes]
rs6951163	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961382	1.00[ASN][1000 genomes]
rs7787598	1.00[ASN][1000 genomes]
rs9886188	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886224	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1028503	chr7:86684514-86778047	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1033834	chr7:86691235-86770796	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv539002	chr7:86691235-86770796	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1023137	chr7:86725145-86767689	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv966725	chr7:86735170-86740059	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86733600-86740800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:86735200-86736800	Enhancers	NHDF-Ad	bronchial
3	chr7:86735800-86737800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:86736400-86738200	Flanking Active TSS	K562	blood
5	chr7:86736600-86737200	Weak transcription	Primary T cells from cord blood	blood
6	chr7:86736800-86737200	Weak transcription	NHDF-Ad	bronchial

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