Variant report

Variant	rs8067246
Chromosome Location	chr17:45066865-45066866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45055891..45057524-chr17:45066563..45068927,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179673	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11570492	1.00[YRI][hapmap]
rs11570584	0.87[YRI][hapmap]
rs11653330	0.99[ASN][1000 genomes]
rs11654437	0.87[ASN][1000 genomes]
rs11656799	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11657519	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11657664	0.84[ASN][1000 genomes]
rs11657803	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12452125	0.82[ASN][1000 genomes]
rs16941444	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16961883	0.80[ASN][1000 genomes]
rs2678713	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs28376067	0.87[ASN][1000 genomes]
rs2907245	0.85[ASN][1000 genomes]
rs2959964	0.87[ASN][1000 genomes]
rs3851791	0.81[GIH][hapmap]
rs3931677	0.99[ASN][1000 genomes]
rs4968298	0.87[ASN][1000 genomes]
rs7214920	0.82[GIH][hapmap]
rs8080126	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
10	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45056800-45069000	Weak transcription	Gastric	stomach
2	chr17:45057000-45078400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr17:45057200-45086800	Weak transcription	Right Atrium	heart
4	chr17:45057200-45100000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr17:45057800-45082400	Weak transcription	Brain Angular Gyrus	brain
6	chr17:45060200-45078400	Weak transcription	Brain Hippocampus Middle	brain
7	chr17:45060200-45080800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr17:45061400-45086600	Weak transcription	Fetal Stomach	stomach
9	chr17:45061800-45087600	Weak transcription	Spleen	Spleen
10	chr17:45062200-45113200	Weak transcription	Ovary	ovary
11	chr17:45062600-45078400	Weak transcription	Pancreas	Pancrea
12	chr17:45064000-45067000	Weak transcription	Fetal Muscle Leg	muscle
13	chr17:45064200-45083000	Weak transcription	Brain Germinal Matrix	brain
14	chr17:45066600-45067200	Enhancers	Fetal Muscle Trunk	muscle
15	chr17:45066800-45067000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:45066800-45067000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:45066800-45068000	Enhancers	Skeletal Muscle Female	skeletal muscle

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