Variant report

Variant	rs17682422
Chromosome Location	chr8:119426860-119426861
allele	A/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	chr8:119122848..119125594-chr8:119426689..119430299,4	MCF-7	breast:
3	chr8:119424882..119426911-chr8:119926050..119928623,2	MCF-7	breast:
4	chr8:118875517..118876420-chr8:119426479..119427389,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17682473	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs17749697	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs2514990	0.92[CEU][hapmap]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119413600-119431400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:119420600-119427200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:119420600-119431200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:119425600-119428000	Enhancers	Liver	Liver
5	chr8:119425600-119429000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:119425800-119427200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:119426000-119427000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:119426000-119427000	Enhancers	A549	lung
9	chr8:119426000-119427200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:119426000-119427200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:119426000-119429000	Enhancers	HMEC	breast
12	chr8:119426200-119427000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:119426200-119427000	Enhancers	Osteobl	bone
14	chr8:119426200-119427400	Enhancers	NHEK	skin
15	chr8:119426400-119427000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:119426400-119427000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:119426400-119427400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:119426600-119427000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:119426600-119427800	Enhancers	NHLF	lung
20	chr8:119426600-119428200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:119426600-119428200	Enhancers	HUVEC	blood vessel
22	chr8:119426600-119429000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:119426800-119427000	Enhancers	NH-A	brain
24	chr8:119426800-119427200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:119426800-119428800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:119426800-119429000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:119426800-119429200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:119426800-119429600	Enhancers	NHDF-Ad	bronchial

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