Variant report

Variant	rs10505334
Chromosome Location	chr8:119428764-119428765
allele	C/T
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	chr8:119428165..119429775-chr8:119429959..119432245,2	K562	blood:
3	chr8:119122848..119125594-chr8:119426689..119430299,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12678159	0.87[CEU][hapmap]
rs12679873	0.88[CEU][hapmap]
rs13269591	0.86[CEU][hapmap]
rs17829264	0.84[ASN][1000 genomes]
rs2514984	0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2514987	0.82[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2514988	0.87[GIH][hapmap]
rs2514989	0.81[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2514992	0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2514994	0.84[ASN][1000 genomes]
rs2515066	1.00[GIH][hapmap]
rs4876414	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs57762320	0.83[ASN][1000 genomes]
rs6469746	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7002648	0.92[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.83[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:26 , 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	chr8:119425600-119429000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:119426000-119429000	Enhancers	HMEC	breast
5	chr8:119426600-119429000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:119426800-119428800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:119426800-119429000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:119426800-119429200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:119426800-119429600	Enhancers	NHDF-Ad	bronchial
10	chr8:119427000-119428800	Enhancers	HSMM	muscle
11	chr8:119427000-119429600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:119427600-119429200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:119427800-119428800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:119427800-119428800	Enhancers	NH-A	brain
15	chr8:119427800-119429000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:119427800-119429600	Enhancers	Osteobl	bone
17	chr8:119428000-119428800	Enhancers	Fetal Stomach	stomach
18	chr8:119428000-119429400	Enhancers	NHEK	skin
19	chr8:119428200-119429000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:119428200-119431200	Weak transcription	HUVEC	blood vessel
21	chr8:119428400-119429200	Enhancers	A549	lung
22	chr8:119428400-119431800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:119428400-119433600	Weak transcription	Fetal Heart	heart
24	chr8:119428600-119428800	Enhancers	NHLF	lung
25	chr8:119428600-119429200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:119428600-119431600	Weak transcription	Hela-S3	cervix

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