Variant report

Variant	rs7827611
Chromosome Location	chr8:54788251-54788252
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	STAT3	chr8:54788195-54788334	MCF10A-Er-Src	breast:	n/a	chr8:54788239-54788247
2	CEBPB	chr8:54788031-54788381	K562	blood:	n/a	chr8:54788237-54788250
3	CEBPB	chr8:54788086-54788404	IMR90	lung:	n/a	chr8:54788237-54788250
4	CEBPB	chr8:54788053-54788434	K562	blood:	n/a	chr8:54788237-54788250
5	FOS	chr8:54788095-54788358	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr8:54788084-54788370	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr8:54788074-54788380	Hela-S3	cervix:	n/a	chr8:54788237-54788250
8	CEBPB	chr8:54788060-54788298	K562	blood:	n/a	chr8:54788237-54788250
9	MAZ	chr8:54788038-54788345	K562	blood:	n/a	n/a
10	FOS	chr8:54788157-54788369	MCF10A-Er-Src	breast:	n/a	n/a
11	SPI1	chr8:54788084-54788260	GM12891	blood:	n/a	n/a
12	SPI1	chr8:54788085-54788296	K562	blood:	n/a	n/a
13	SPI1	chr8:54788060-54788270	GM12878	blood:	n/a	n/a
14	STAT3	chr8:54788099-54788253	MCF10A-Er-Src	breast:	n/a	chr8:54788239-54788247
15	FOS	chr8:54788145-54788369	MCF10A-Er-Src	breast:	n/a	n/a
16	SPI1	chr8:54787947-54788464	HL-60	blood:	n/a	n/a
17	ATF1	chr8:54788054-54788369	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54785381..54788323-chr8:54789364..54792317,2	MCF-7	breast:

Variant related genes	Relation type
RGS20	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1004228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504158	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11985729	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1384797	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1483538	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1483539	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1483540	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1483542	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1842982	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1842983	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1842984	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2062226	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2306584	0.84[EUR][1000 genomes]
rs2306585	0.80[ASN][1000 genomes]
rs3824121	1.00[CEU][hapmap]
rs4518622	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57546155	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57553178	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58652215	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60696924	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60819522	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61194604	0.84[ASN][1000 genomes]
rs61231337	0.86[ASN][1000 genomes]
rs61433056	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6473894	1.00[CEU][hapmap]
rs6994332	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6997050	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6998532	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7016171	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7017291	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7017967	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73680325	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73680341	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73680342	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73680346	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7831399	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7846259	1.00[CEU][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54782600-54788400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:54784200-54789000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:54785400-54789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54785600-54791400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:54787200-54789000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:54788000-54788400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:54788000-54788400	Enhancers	HMEC	breast
8	chr8:54788000-54788400	Enhancers	NHEK	skin
9	chr8:54788000-54788600	Enhancers	A549	lung
10	chr8:54788000-54789000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:54788000-54789000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:54788200-54788400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:54788200-54788800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:54788200-54789000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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