Variant report

Variant	rs521592
Chromosome Location	chr8:90623228-90623229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90497830..90499463-chr8:90622312..90625050,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2644012	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs621108	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs637778	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs656153	0.81[CEU][hapmap]
rs827730	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1028969	chr8:90475194-90650295	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv427825	chr8:90495139-90653696	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv870380	chr8:90546585-90720182	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1028026	chr8:90553930-90678631	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv982109	chr8:90556188-90703631	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1026523	chr8:90558935-90722580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1019986	chr8:90570309-90628648	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv1017263	chr8:90605445-90722580	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs521592	TMEM64	cis	parietal	SCAN
rs521592	TMEM55A	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90597400-90624000	Weak transcription	Aorta	Aorta
2	chr8:90599600-90650800	Weak transcription	Left Ventricle	heart
3	chr8:90616000-90630000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:90616000-90652600	Weak transcription	Ovary	ovary
5	chr8:90619600-90623400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:90619800-90623600	Weak transcription	HSMM	muscle
7	chr8:90620000-90623600	Weak transcription	HSMMtube	muscle
8	chr8:90621000-90623800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:90621200-90625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:90621200-90637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:90622400-90630800	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:90622600-90624200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:90622600-90625600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:90622800-90624000	Enhancers	HepG2	liver
15	chr8:90622800-90624000	Enhancers	NHDF-Ad	bronchial
16	chr8:90622800-90624200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr8:90622800-90624400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:90622800-90625000	Enhancers	Fetal Intestine Large	intestine
19	chr8:90622800-90625800	Enhancers	HUVEC	blood vessel
20	chr8:90623000-90623400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:90623000-90623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:90623000-90623600	Enhancers	A549	lung
23	chr8:90623000-90624000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:90623000-90624200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:90623000-90624200	Flanking Active TSS	HMEC	breast
26	chr8:90623000-90625000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:90623200-90623600	Enhancers	NH-A	brain
28	chr8:90623200-90623600	Enhancers	NHEK	skin
29	chr8:90623200-90624000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr8:90623200-90624200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr8:90623200-90624600	Enhancers	NHLF	lung
32	chr8:90623200-90625600	Enhancers	Osteobl	bone

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