Variant report

Variant	rs6998532
Chromosome Location	chr8:54759053-54759054
allele	A/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	CHD2	chr8:54758957-54759344	Hela-S3	cervix:	n/a	n/a
2	ATF1	chr8:54758642-54759219	K562	blood:	n/a	n/a
3	CEBPB	chr8:54758637-54759362	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:54758777-54759126	K562	blood:	n/a	n/a
5	MYC	chr8:54758842-54759179	MCF10A-Er-Src	breast:	n/a	chr8:54758879-54758888
6	FOS	chr8:54758827-54759220	MCF10A-Er-Src	breast:	n/a	chr8:54759032-54759043
7	CEBPB	chr8:54758840-54759226	IMR90	lung:	n/a	n/a
8	JUND	chr8:54758862-54759224	Hela-S3	cervix:	n/a	n/a
9	MYC	chr8:54758814-54759244	MCF10A-Er-Src	breast:	n/a	chr8:54758879-54758888
10	JUND	chr8:54758588-54759296	K562	blood:	n/a	chr8:54758744-54758753
11	CEBPB	chr8:54758898-54759126	K562	blood:	n/a	n/a
12	STAT3	chr8:54758735-54759177	MCF10A-Er-Src	breast:	n/a	n/a
13	MAX	chr8:54758785-54759185	Hela-S3	cervix:	n/a	chr8:54758879-54758888
14	CUX1	chr8:54758712-54759197	K562	blood:	n/a	n/a
15	RCOR1	chr8:54758802-54759229	K562	blood:	n/a	n/a
16	EP300	chr8:54758781-54759137	K562	blood:	n/a	n/a
17	FOS	chr8:54758852-54759220	MCF10A-Er-Src	breast:	n/a	chr8:54759032-54759043
18	RCOR1	chr8:54758802-54759297	Hela-S3	cervix:	n/a	n/a
19	EP300	chr8:54758705-54759275	Hela-S3	cervix:	n/a	n/a
20	FOS	chr8:54758850-54759217	HUVEC	blood vessel:	n/a	chr8:54759032-54759043
21	CEBPB	chr8:54758762-54759170	K562	blood:	n/a	n/a
22	JUND	chr8:54758573-54759084	HepG2	liver:	n/a	chr8:54758744-54758753
23	FOS	chr8:54758811-54759220	MCF10A-Er-Src	breast:	n/a	chr8:54759032-54759043
24	FOS	chr8:54758880-54759223	MCF10A-Er-Src	breast:	n/a	chr8:54759032-54759043
25	E2F4	chr8:54759003-54759203	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:54757544..54760032-chr8:54922745..54924371,2	MCF-7	breast:
2	chr8:54755445..54757415-chr8:54757467..54760114,2	K562	blood:
3	chr8:54754041..54757436-chr8:54757512..54760857,5	MCF-7	breast:
4	chr8:54755685..54759999-chr8:54761654..54766287,5	MCF-7	breast:
5	chr8:54751933..54754911-chr8:54758498..54760482,2	K562	blood:
6	chr8:54754476..54757676-chr8:54757839..54759715,3	MCF-7	breast:

Variant related genes	Relation type
ATP6V1H	TF binding region
ENSG00000047249	Chromatin interaction
ENSG00000147509	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1004228	1.00[CEU][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10504158	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11985729	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1384797	1.00[CEU][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1483538	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1483539	1.00[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1483540	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1483542	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs16919616	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1842982	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1842983	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1842984	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2062226	0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2306584	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306585	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3824121	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4518622	0.82[ASN][1000 genomes]
rs4737974	0.81[YRI][hapmap]
rs4738025	0.89[YRI][hapmap]
rs4738027	0.82[YRI][hapmap]
rs57546155	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57553178	0.84[EUR][1000 genomes]
rs58652215	0.94[EUR][1000 genomes]
rs60696924	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60819522	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61194604	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61433056	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473894	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs6984257	0.82[YRI][hapmap]
rs6994332	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997050	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7016171	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017967	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73680325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73680341	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73680342	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73680346	0.84[EUR][1000 genomes]
rs7827611	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7831399	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7846259	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9643820	0.82[YRI][hapmap]

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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54756600-54762200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:54756600-54764200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:54756600-54766200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:54758600-54759200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:54758600-54759200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:54758600-54759200	Enhancers	NHDF-Ad	bronchial
7	chr8:54758600-54759800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr8:54758600-54760200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:54758800-54759200	Enhancers	NHEK	skin
10	chr8:54758800-54759400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:54758800-54759600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:54758800-54760200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:54759000-54759800	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:54759000-54759800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:54759000-54760800	ZNF genes & repeats	GM12878-XiMat	blood

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