Variant report

Variant	rs508537
Chromosome Location	chr3:101011537-101011538
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	chr3:100997650..101000246-chr3:101010529..101013329,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10936607	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10936664	0.83[EUR][1000 genomes]
rs12491955	0.82[EUR][1000 genomes]
rs12496260	0.82[EUR][1000 genomes]
rs13087404	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13089177	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs13089552	0.98[ASN][1000 genomes]
rs13320918	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13322987	0.82[EUR][1000 genomes]
rs16843927	0.83[EUR][1000 genomes]
rs2141179	0.83[EUR][1000 genomes]
rs2141180	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2250611	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2317699	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2317700	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2317745	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2317749	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2317751	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2433031	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2553416	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2553424	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2553427	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2553430	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2682383	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2682384	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2682386	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2682390	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2682391	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34255148	0.81[EUR][1000 genomes]
rs348866	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs348869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3846091	0.83[EUR][1000 genomes]
rs4683899	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4683900	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4683917	0.82[EUR][1000 genomes]
rs4683918	0.82[EUR][1000 genomes]
rs473702	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs487623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs497953	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs503734	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs520558	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs533852	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs551442	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56075912	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62280667	0.86[ASN][1000 genomes]
rs6441602	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6441608	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6441610	0.83[EUR][1000 genomes]
rs6771561	0.84[EUR][1000 genomes]
rs6772703	0.81[EUR][1000 genomes]
rs6773536	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7631506	0.82[EUR][1000 genomes]
rs7636475	0.80[EUR][1000 genomes]
rs9816469	0.89[ASN][1000 genomes]
rs9843186	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9856435	0.82[EUR][1000 genomes]
rs9859077	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9870114	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3439278	chr3:100936513-101162102	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv508232	chr3:101004851-101028209	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1003475	chr3:101005238-101120030	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs508537	SENP7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100958800-101012800	Weak transcription	Left Ventricle	heart
2	chr3:100989400-101018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:100999200-101014600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:101009800-101011600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:101010600-101011600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:101010800-101011600	Enhancers	NH-A	brain
7	chr3:101010800-101011600	Enhancers	Osteobl	bone
8	chr3:101011200-101011600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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