Variant report

Variant	rs7709153
Chromosome Location	chr5:81065381-81065382
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	chr5:81046328..81048872-chr5:81065061..81067716,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145687	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13360497	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17233376	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72773081	1.00[ASN][1000 genomes]
rs72773085	1.00[ASN][1000 genomes]
rs7723889	1.00[ASN][1000 genomes]
rs7728918	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv869102	chr5:81052386-81494502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7709153	SPZ1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81052200-81065400	Weak transcription	Placenta	Placenta
2	chr5:81052800-81072200	Weak transcription	Psoas Muscle	Psoas
3	chr5:81060600-81069400	Weak transcription	K562	blood
4	chr5:81063600-81065600	Enhancers	Hela-S3	cervix
5	chr5:81063800-81065600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:81063800-81065600	Enhancers	HMEC	breast
7	chr5:81064400-81065600	Enhancers	HSMM	muscle
8	chr5:81064600-81065400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr5:81064600-81065600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:81064600-81065600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:81064600-81065600	Enhancers	HUVEC	blood vessel
12	chr5:81064600-81065600	Enhancers	NHEK	skin
13	chr5:81064800-81065400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:81064800-81065400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:81064800-81065400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:81064800-81065400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:81064800-81065400	Flanking Active TSS	A549	lung
18	chr5:81064800-81065400	Flanking Active TSS	NH-A	brain
19	chr5:81065000-81065400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:81065000-81065400	Enhancers	Aorta	Aorta
21	chr5:81065000-81065400	Enhancers	Gastric	stomach
22	chr5:81065000-81065400	Enhancers	Ovary	ovary
23	chr5:81065000-81065400	Flanking Active TSS	NHDF-Ad	bronchial
24	chr5:81065000-81065600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:81065000-81065600	Enhancers	NHLF	lung
26	chr5:81065200-81065400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:81065200-81065400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:81065200-81065600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:81065200-81065600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:81065200-81065600	Flanking Active TSS	Osteobl	bone
31	chr5:81065200-81083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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