Variant report

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr8:69534422-69535497	T-47D	breast:	n/a	n/a
2	ZNF217	chr8:69534389-69535357	MCF-7	breast:	n/a	n/a
3	ESR1	chr8:69534449-69535539	T-47D	breast:	n/a	n/a
4	CEBPB	chr8:69534536-69535195	MCF-7	breast:	n/a	n/a
5	SIN3AK20	chr8:69534081-69535716	MCF-7	breast:	n/a	n/a
6	GATA3	chr8:69534138-69535548	MCF-7	breast:	n/a	n/a
7	EP300	chr8:69534540-69535493	T-47D	breast:	n/a	chr8:69535168-69535182 chr8:69534691-69534705
8	GATA3	chr8:69534459-69535262	SK-N-SH	brain:	n/a	n/a
9	SIN3AK20	chr8:69534446-69535412	MCF-7	breast:	n/a	n/a
10	TCF12	chr8:69534501-69534999	A549	lung:	n/a	n/a
11	GATA3	chr8:69534443-69535726	MCF-7	breast:	n/a	n/a
12	NR2F2	chr8:69534462-69535284	MCF-7	breast:	n/a	n/a
13	NR2F2	chr8:69534356-69535198	MCF-7	breast:	n/a	n/a
14	TCF7L2	chr8:69534536-69535455	MCF-7	breast:	n/a	chr8:69534932-69534946
15	FOXM1	chr8:69534499-69535380	MCF-7	breast:	n/a	n/a
16	GATA3	chr8:69534148-69535605	MCF-7	breast:	n/a	n/a
17	ESR1	chr8:69534459-69535487	T-47D	breast:	n/a	n/a
18	ESR1	chr8:69534461-69535526	T-47D	breast:	n/a	n/a
19	EP300	chr8:69534335-69535230	MCF-7	breast:	n/a	chr8:69535168-69535182 chr8:69534691-69534705
20	TCF12	chr8:69534467-69535271	MCF-7	breast:	n/a	n/a
21	GATA3	chr8:69534540-69535236	SK-N-SH	brain:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:69534291..69534942-chr8:69765230..69765734,2	MCF-7	breast:
2	chr8:69492103..69494727-chr8:69533506..69535044,2	MCF-7	breast:
3	chr8:69534052..69536698-chr8:70069393..70070949,2	MCF-7	breast:
4	chr8:69534376..69536332-chr8:69649057..69650937,3	MCF-7	breast:
5	chr8:69533271..69537103-chr8:69641120..69648413,10	MCF-7	breast:
6	chr8:69496116..69499220-chr8:69532827..69534879,3	MCF-7	breast:
7	chr8:69489824..69491540-chr8:69533022..69534963,2	MCF-7	breast:
8	chr8:69532291..69534755-chr8:69764407..69765962,2	MCF-7	breast:
9	chr8:69533205..69534813-chr8:69643253..69646107,2	MCF-7	breast:
10	chr8:69532014..69534673-chr8:69610111..69611773,2	MCF-7	breast:
11	chr19:7264702..7266418-chr8:69534338..69536805,2	MCF-7	breast:
12	chr8:69533114..69536525-chr8:69763843..69767618,4	MCF-7	breast:

No data

Variant related genes	Relation type
C8orf34	TF binding region
ENSG00000254337	Chromatin interaction

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10111308	0.86[ASN][1000 genomes]
rs11780358	0.87[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1369225	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1434928	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1434929	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1583423	0.90[ASN][1000 genomes]
rs2380483	0.87[CEU][hapmap];0.82[CHB][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs4366070	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4993630	0.85[ASN][1000 genomes]
rs920015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv890981	chr8:69413110-69534542	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv890984	chr8:69482825-69556111	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv520587	chr8:69530428-69535622	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv890985	chr8:69532253-69586034	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4313142	C8orf44	cis	parietal	SCAN
rs4313142	LRRC67	cis	parietal	SCAN
rs4313142	CRH	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69532800-69544800	Weak transcription	Aorta	Aorta
2	chr8:69534200-69535000	Enhancers	Fetal Lung	lung
3	chr8:69534200-69535400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:69534200-69535400	Enhancers	NHDF-Ad	bronchial
5	chr8:69534200-69536000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:69534400-69534600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:69534400-69535400	Enhancers	Muscle Satellite Cultured Cells	--

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