Variant report

Variant	rs2065955
Chromosome Location	chr1:152277055-152277056
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10749669	0.93[CEU][hapmap]
rs10749670	0.93[CEU][hapmap]
rs10788824	0.93[CEU][hapmap]
rs10888470	0.93[CEU][hapmap]
rs10888471	0.93[CEU][hapmap]
rs10888473	0.93[CEU][hapmap]
rs10888483	0.83[EUR][1000 genomes]
rs11204947	0.93[CEU][hapmap]
rs11204948	0.93[CEU][hapmap]
rs11204949	0.85[CEU][hapmap]
rs11204976	0.81[ASN][1000 genomes]
rs11204978	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11204980	0.93[CEU][hapmap];0.83[ASN][1000 genomes]
rs11204981	0.93[CEU][hapmap];0.83[ASN][1000 genomes]
rs11485508	0.83[ASN][1000 genomes]
rs11583524	0.93[CEU][hapmap]
rs11584340	0.93[CEU][hapmap];0.84[ASN][1000 genomes]
rs11584427	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11586114	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11587676	1.00[CEU][hapmap]
rs11588170	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11588174	0.93[CEU][hapmap]
rs12027807	0.83[ASN][1000 genomes]
rs12027899	0.80[ASN][1000 genomes]
rs12045492	0.80[ASN][1000 genomes]
rs12045496	0.80[ASN][1000 genomes]
rs12405241	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12405278	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12407156	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12407553	0.82[ASN][1000 genomes]
rs12407748	0.93[EUR][1000 genomes]
rs12407807	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12730241	0.81[ASN][1000 genomes]
rs1390488	0.93[CEU][hapmap]
rs1390490	0.93[CEU][hapmap]
rs1496045	0.93[CEU][hapmap]
rs1858479	0.83[ASN][1000 genomes]
rs1858480	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1858482	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2050631	0.83[ASN][1000 genomes]
rs2065956	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2184950	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2184951	0.81[ASN][1000 genomes]
rs2184953	0.81[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2338555	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2338556	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3091276	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3120642	0.82[AMR][1000 genomes]
rs3120653	0.81[AMR][1000 genomes]
rs3120659	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3120661	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3120662	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3126055	0.82[ASN][1000 genomes]
rs3126056	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3126058	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3126060	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3126062	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3126066	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3126067	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3126072	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3126074	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3126079	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3126085	0.93[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3126088	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3126089	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3126091	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3126092	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3126094	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3126095	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3126097	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3126098	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34188926	0.83[ASN][1000 genomes]
rs41267154	0.84[ASN][1000 genomes]
rs4369233	0.86[EUR][1000 genomes]
rs4845423	0.93[CEU][hapmap]
rs4845736	1.00[CEU][hapmap]
rs4845745	0.93[CEU][hapmap]
rs4845750	0.93[CEU][hapmap]
rs55650366	0.82[ASN][1000 genomes]
rs57672167	0.87[AMR][1000 genomes]
rs58832908	0.88[EUR][1000 genomes]
rs6587666	0.93[CEU][hapmap];0.83[ASN][1000 genomes]
rs6661167	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6666382	0.93[CEU][hapmap]
rs6681433	0.84[ASN][1000 genomes]
rs6681457	0.83[ASN][1000 genomes]
rs6683653	0.83[EUR][1000 genomes]
rs72697000	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72698906	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7522925	0.81[EUR][1000 genomes]
rs7550106	0.93[CEU][hapmap]
rs877776	0.93[CEU][hapmap]
rs9435974	0.83[AMR][1000 genomes]
rs9436062	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv18892	chr1:152274215-152287539	ZNF genes & repeats Strong transcription Weak transcription Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3322880	chr1:152274354-152281047	Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	nsv471348	chr1:152274651-152297679	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1810816	chr1:152274993-152286236	Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1827528	chr1:152274993-152286236	Strong transcription ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1812211	chr1:152275193-152286036	Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1826389	chr1:152275193-152286036	ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3523401	chr1:152276028-152280426	Weak transcription ZNF genes & repeats Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
12	esv3523402	chr1:152276028-152280426	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv3354621	chr1:152276028-152280726	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases
14	esv3395707	chr1:152276067-152282031	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152274000-152283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152274200-152279600	Weak transcription	Fetal Lung	lung
3	chr1:152274200-152281400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:152275400-152277200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:152276000-152279600	Weak transcription	Pancreas	Pancrea
6	chr1:152276000-152279800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:152276600-152280400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:152276800-152277600	ZNF genes & repeats	Esophagus	oesophagus
9	chr1:152277000-152277600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:152277000-152279600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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