Variant report

Variant	rs953281
Chromosome Location	chr3:102511057-102511058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1241144	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1241153	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486666	0.89[ASN][1000 genomes]
rs1263031	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1271234	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13084671	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1353692	0.87[ASN][1000 genomes]
rs1397909	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1498070	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498086	0.89[ASN][1000 genomes]
rs1498089	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1694183	0.82[ASN][1000 genomes]
rs1694185	0.82[ASN][1000 genomes]
rs1705928	0.82[ASN][1000 genomes]
rs17831612	0.87[ASN][1000 genomes]
rs1912798	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2088475	0.89[ASN][1000 genomes]
rs2173329	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2398774	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34116120	0.89[ASN][1000 genomes]
rs3914180	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4455323	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4856063	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4856149	0.89[ASN][1000 genomes]
rs55635554	0.89[ASN][1000 genomes]
rs6441671	0.89[ASN][1000 genomes]
rs6768201	0.89[ASN][1000 genomes]
rs6768503	0.89[ASN][1000 genomes]
rs6770963	0.89[ASN][1000 genomes]
rs6800928	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs697788	0.82[EUR][1000 genomes]
rs73137731	0.86[ASN][1000 genomes]
rs73137742	0.84[ASN][1000 genomes]
rs73139703	0.87[ASN][1000 genomes]
rs73139709	0.87[ASN][1000 genomes]
rs7431663	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7610030	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613307	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614921	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641895	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs825345	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825346	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs825347	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825356	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs825357	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs825358	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs825360	0.86[ASN][1000 genomes]
rs825361	0.86[ASN][1000 genomes]
rs931652	0.87[ASN][1000 genomes]
rs9810913	0.89[ASN][1000 genomes]
rs9815206	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9866969	0.87[ASN][1000 genomes]
rs9869638	0.88[CHB][hapmap];0.87[CHD][hapmap];0.81[MEX][hapmap];0.86[ASN][1000 genomes]
rs9882411	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883402	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007340	chr3:102108954-102725099	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv536676	chr3:102108954-102725099	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1009392	chr3:102199756-102631205	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv877228	chr3:102345638-102751470	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv591190	chr3:102345638-102946216	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv834776	chr3:102351486-102532042	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1000584	chr3:102358773-102923378	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv915978	chr3:102386795-102949530	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv877229	chr3:102415127-102649650	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv877230	chr3:102457118-102635852	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1013012	chr3:102458158-102587883	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv460792	chr3:102467051-103087654	ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv591191	chr3:102467051-103087654	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv834777	chr3:102467438-102634450	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv532630	chr3:102481788-102677637	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv236493	chr3:102503531-102512005	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs953281	SENP7	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102508400-102512200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:102508400-102518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:102509800-102511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:102510000-102511200	Enhancers	NHDF-Ad	bronchial
5	chr3:102510400-102511400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:102510400-102511600	Enhancers	Fetal Lung	lung
7	chr3:102510800-102511400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:102511000-102511200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:102511000-102511400	Enhancers	NH-A	brain
10	chr3:102511000-102512000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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