Variant report

Variant	rs4876411
Chromosome Location	chr8:119427210-119427211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119122724..119126766-chr8:119426367..119429330,6	MCF-7	breast:
2	chr8:118486317..118487175-chr8:119426958..119427783,2	MCF-7	breast:
3	chr8:119122848..119125594-chr8:119426689..119430299,4	MCF-7	breast:
4	chr8:119132642..119133483-chr8:119426942..119427821,2	MCF-7	breast:
5	chr8:118875517..118876420-chr8:119426479..119427389,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2514986	0.90[ASN][1000 genomes]
rs2514990	0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2514991	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2514993	0.87[ASN][1000 genomes]
rs2515065	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4876412	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876413	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4876828	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876829	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119413600-119431400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:119420600-119431200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:119425600-119428000	Enhancers	Liver	Liver
4	chr8:119425600-119429000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:119426000-119429000	Enhancers	HMEC	breast
6	chr8:119426200-119427400	Enhancers	NHEK	skin
7	chr8:119426400-119427400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:119426600-119427800	Enhancers	NHLF	lung
9	chr8:119426600-119428200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:119426600-119428200	Enhancers	HUVEC	blood vessel
11	chr8:119426600-119429000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:119426800-119428800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:119426800-119429000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:119426800-119429200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:119426800-119429600	Enhancers	NHDF-Ad	bronchial
16	chr8:119427000-119427400	Enhancers	HSMMtube	muscle
17	chr8:119427000-119427800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:119427000-119427800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:119427000-119427800	Flanking Active TSS	NH-A	brain
20	chr8:119427000-119427800	Flanking Active TSS	Osteobl	bone
21	chr8:119427000-119428200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:119427000-119428200	Enhancers	Fetal Lung	lung
23	chr8:119427000-119428400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:119427000-119428400	Flanking Active TSS	A549	lung
25	chr8:119427000-119428600	Enhancers	Hela-S3	cervix
26	chr8:119427000-119428800	Enhancers	HSMM	muscle
27	chr8:119427000-119429600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:119427200-119427400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:119427200-119427600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:119427200-119428200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:119427200-119428400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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