Variant report

Variant	rs7002454
Chromosome Location	chr8:104278779-104278780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104277174..104278799-chr8:104425845..104427613,2	MCF-7	breast:
2	chr8:104268461..104270689-chr8:104277441..104279218,2	MCF-7	breast:
3	chr8:104156664..104158879-chr8:104277049..104279566,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf56-1	chr8:104278773-104279748	NONHSAT128175

Variant related genes	Relation type
ENSG00000164934	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10089245	0.84[ASN][1000 genomes]
rs10097018	0.84[ASN][1000 genomes]
rs10103573	0.87[ASN][1000 genomes]
rs10955313	0.87[ASN][1000 genomes]
rs11782632	0.84[ASN][1000 genomes]
rs12678419	0.94[ASN][1000 genomes]
rs16870240	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17799574	0.84[ASN][1000 genomes]
rs2201369	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2201370	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34111666	0.82[ASN][1000 genomes]
rs34602800	0.84[ASN][1000 genomes]
rs35710705	0.84[ASN][1000 genomes]
rs3736045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs57766637	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60751214	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62525471	0.94[ASN][1000 genomes]
rs6985929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997475	0.93[EUR][1000 genomes]
rs7005789	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73283939	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73283943	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73283949	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7817074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818693	0.90[AFR][1000 genomes]
rs7818987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822939	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835655	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844873	0.87[ASN][1000 genomes]
rs996200	0.88[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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104252200-104279000	Weak transcription	Aorta	Aorta
2	chr8:104268200-104283400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:104268800-104281200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:104269000-104283400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:104269800-104283200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:104269800-104283600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:104276000-104279400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:104276400-104279800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:104276600-104279000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:104276600-104280200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:104276800-104280600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:104277000-104279400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:104277400-104279000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:104277400-104279200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:104277400-104279600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:104277400-104279600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:104277600-104279000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:104277800-104280600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:104278000-104279000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:104278000-104279200	Weak transcription	NHDF-Ad	bronchial
21	chr8:104278200-104279400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:104278400-104279400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:104278400-104279800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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