Variant report

Variant	rs7003464
Chromosome Location	chr8:124289192-124289193
allele	G/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	REST	chr8:124289125-124289328	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr8:124289155-124289229	K562	blood:	n/a	n/a
3	MYC	chr8:124289173-124289478	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr8:124288780-124289383	MCF10A-Er-Src	breast:	n/a	chr8:124288968-124288979 chr8:124289097-124289105
5	TFAP2A	chr8:124289068-124289459	Hela-S3	cervix:	n/a	chr8:124289234-124289246 chr8:124289234-124289246 chr8:124289234-124289246 chr8:124289234-124289246 chr8:124289231-124289246
6	NR2F2	chr8:124288887-124289498	MCF-7	breast:	n/a	n/a
7	TFAP2C	chr8:124288897-124289456	Hela-S3	cervix:	n/a	n/a
8	TCF7L2	chr8:124289115-124289397	MCF-7	breast:	n/a	n/a
9	STAT3	chr8:124288871-124289346	MCF10A-Er-Src	breast:	n/a	chr8:124288968-124288979 chr8:124289097-124289105
10	NFIC	chr8:124289011-124289492	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr8:124289137-124289882	MCF-7	breast:	n/a	chr8:124289370-124289383
12	FOS	chr8:124288813-124289421	MCF10A-Er-Src	breast:	n/a	n/a
13	SIN3AK20	chr8:124288845-124289968	MCF-7	breast:	n/a	n/a
14	MYC	chr8:124289150-124289424	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr8:124288803-124289472	MCF10A-Er-Src	breast:	n/a	n/a
16	ZNF217	chr8:124289093-124289424	MCF-7	breast:	n/a	n/a
17	REST	chr8:124289010-124289488	MCF-7	breast:	n/a	n/a
18	REST	chr8:124289016-124289540	MCF-7	breast:	n/a	n/a
19	STAT3	chr8:124288782-124289425	MCF10A-Er-Src	breast:	n/a	chr8:124288968-124288979 chr8:124289097-124289105
20	GATA3	chr8:124289060-124289447	T-47D	breast:	n/a	chr8:124289333-124289342

No.	Distal block	Cell Line	Cell type
1	chr8:124287117..124289356-chr8:124428879..124431490,3	MCF-7	breast:
2	chr8:124288779..124290734-chr8:124777075..124778688,2	MCF-7	breast:
3	chr8:124288963..124291193-chr8:124295554..124298601,3	K562	blood:
4	chr8:124284678..124290463-chr8:124295890..124302199,8	K562	blood:
5	chr8:124283826..124290020-chr8:124406062..124410538,8	MCF-7	breast:

Variant related genes	Relation type
ZHX1	TF binding region
ENSG00000156802	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000253336	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10089968	0.83[AMR][1000 genomes]
rs10103175	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs10104148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985857	0.91[AFR][1000 genomes]
rs11989904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11991144	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs11991436	1.00[MEX][hapmap]
rs11992098	1.00[MEX][hapmap]
rs11996182	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11997908	0.83[AMR][1000 genomes]
rs16897940	1.00[MEX][hapmap]
rs16898127	1.00[MEX][hapmap]
rs16898257	0.83[AMR][1000 genomes]
rs1869248	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28461952	0.83[AMR][1000 genomes]
rs5001348	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs6987701	1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6990003	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7007690	0.83[AMR][1000 genomes]
rs7009541	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817491	1.00[ASW][hapmap]
rs900629	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124287800-124289800	Enhancers	Fetal Brain Male	brain
2	chr8:124287800-124301200	Weak transcription	Esophagus	oesophagus
3	chr8:124288000-124289200	Weak transcription	Psoas Muscle	Psoas
4	chr8:124288000-124289400	Enhancers	Liver	Liver
5	chr8:124288000-124289600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:124288000-124290200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:124288000-124291400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:124288000-124291600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:124288200-124289200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:124288200-124289200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:124288200-124289200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:124288200-124289400	Enhancers	Brain Germinal Matrix	brain
13	chr8:124288200-124289400	Enhancers	Brain Hippocampus Middle	brain
14	chr8:124288200-124289400	Enhancers	Fetal Muscle Leg	muscle
15	chr8:124288200-124289600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:124288200-124289800	Enhancers	Fetal Brain Female	brain
17	chr8:124288200-124290000	Enhancers	Brain Anterior Caudate	brain
18	chr8:124288200-124290000	Enhancers	Hela-S3	cervix
19	chr8:124288200-124290400	Enhancers	Fetal Lung	lung
20	chr8:124288200-124290800	Weak transcription	HepG2	liver
21	chr8:124288200-124291200	Weak transcription	Fetal Kidney	kidney
22	chr8:124288200-124291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:124288200-124298200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:124288200-124298400	Weak transcription	Right Atrium	heart
25	chr8:124288400-124289400	Enhancers	Brain Cingulate Gyrus	brain
26	chr8:124288600-124289200	Enhancers	Placenta	Placenta
27	chr8:124288600-124289400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:124288600-124289400	Enhancers	Brain Substantia Nigra	brain
29	chr8:124288600-124289800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:124288800-124289200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:124288800-124289200	Enhancers	Fetal Heart	heart
32	chr8:124288800-124289200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr8:124288800-124289400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:124288800-124289400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:124288800-124289400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:124288800-124289400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:124288800-124289400	Enhancers	Brain Angular Gyrus	brain
38	chr8:124288800-124289400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:124288800-124289400	Enhancers	NHEK	skin
40	chr8:124288800-124289800	Enhancers	Fetal Intestine Small	intestine
41	chr8:124288800-124289800	Enhancers	HMEC	breast
42	chr8:124288800-124290000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr8:124288800-124290200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr8:124288800-124290400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:124289000-124289400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:124289000-124289400	Enhancers	HUVEC	blood vessel
47	chr8:124289000-124289400	Enhancers	Osteobl	bone
48	chr8:124289000-124289600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:124289000-124290200	Enhancers	HSMM	muscle
50	chr8:124289000-124291600	Weak transcription	Fetal Muscle Trunk	muscle

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