Variant report

Variant	rs6552176
Chromosome Location	chr4:69115244-69115245
allele	A/G
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	BHLHE40	chr4:69115198-69115451	GM12878	blood:	n/a	n/a
2	SPI1	chr4:69115189-69115554	GM12891	blood:	n/a	chr4:69115451-69115458 chr4:69115450-69115459 chr4:69115449-69115462 chr4:69115449-69115462 chr4:69115448-69115461
3	EBF1	chr4:69115242-69115471	GM12878	blood:	n/a	n/a
4	IRF4	chr4:69115171-69115533	GM12878	blood:	n/a	chr4:69115376-69115390
5	FOS	chr4:69115208-69115408	MCF10A-Er-Src	breast:	n/a	n/a
6	SPI1	chr4:69115181-69115739	HL-60	blood:	n/a	chr4:69115451-69115458 chr4:69115450-69115459 chr4:69115449-69115462 chr4:69115449-69115462 chr4:69115448-69115461
7	SPI1	chr4:69115196-69115589	GM12891	blood:	n/a	chr4:69115451-69115458 chr4:69115450-69115459 chr4:69115449-69115462 chr4:69115449-69115462 chr4:69115448-69115461
8	EP300	chr4:69115062-69115505	GM12878	blood:	n/a	chr4:69115450-69115459
9	CREB1	chr4:69115026-69115671	GM12878	blood:	n/a	n/a
10	WRNIP1	chr4:69115107-69115408	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:69115147-69115501	GM12878	blood:	n/a	n/a
12	NFIC	chr4:69114999-69115622	GM12878	blood:	n/a	n/a
13	FOS	chr4:69115166-69115401	MCF10A-Er-Src	breast:	n/a	n/a
14	BATF	chr4:69115111-69115437	GM12878	blood:	n/a	chr4:69115296-69115307 chr4:69115376-69115384
15	RUNX3	chr4:69115018-69115593	GM12878	blood:	n/a	n/a
16	SPI1	chr4:69115069-69115839	GM12878	blood:	n/a	chr4:69115451-69115458 chr4:69115450-69115459 chr4:69115449-69115462 chr4:69115449-69115462 chr4:69115448-69115461
17	STAT3	chr4:69115229-69115498	MCF10A-Er-Src	breast:	n/a	chr4:69115464-69115475

Variant related genes	Relation type
TMPRSS11B	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10004760	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10008636	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010343	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016397	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10024748	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735405	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331141	0.91[CEU][hapmap]
rs12331361	0.91[CEU][hapmap]
rs12512325	1.00[CEU][hapmap]
rs12512581	0.86[CEU][hapmap]
rs12640443	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649371	0.91[CEU][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13106085	0.91[CEU][hapmap]
rs13151732	1.00[ASN][1000 genomes]
rs2319797	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319800	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319880	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2319881	1.00[ASN][1000 genomes]
rs2319882	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2319883	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2319884	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2319885	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2874106	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28866559	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34174148	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241691	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241692	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4327562	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4394068	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4397076	0.91[CEU][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4409031	0.91[CEU][hapmap]
rs4463136	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4561987	0.91[CEU][hapmap]
rs4565153	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4860911	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4860912	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4860913	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4860914	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4860915	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4860916	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4860920	0.91[CEU][hapmap]
rs6552170	0.91[CEU][hapmap]
rs6552171	0.91[CEU][hapmap]
rs6552175	0.91[CEU][hapmap];0.83[YRI][hapmap]
rs6815734	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6826944	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828329	1.00[ASN][1000 genomes]
rs6832266	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6840329	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6844934	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845487	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6857204	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7434397	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7434495	0.91[CEU][hapmap];0.80[YRI][hapmap]
rs7665124	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670560	0.83[ASN][1000 genomes]
rs9312193	1.00[CEU][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1812438	chr4:68943858-69154222	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv461546	chr4:69049643-69223057	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv594506	chr4:69049643-69223057	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69115000-69115400	Flanking Active TSS	GM12878-XiMat	blood
2	chr4:69115000-69116200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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