Variant report

Variant	rs1073305
Chromosome Location	chr12:10809949-10809950
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10083035	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1026442	0.82[JPT][hapmap]
rs10431297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1054396	0.82[JPT][hapmap]
rs10743911	0.82[JPT][hapmap]
rs10743912	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10743913	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743916	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772334	0.83[JPT][hapmap]
rs10772340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10772343	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772344	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772346	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10772347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1078437	0.81[CEU][hapmap]
rs10845180	0.82[JPT][hapmap]
rs10845181	0.86[JPT][hapmap]
rs10845185	0.82[JPT][hapmap]
rs10845187	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs10845188	0.84[CEU][hapmap];0.87[JPT][hapmap]
rs10845189	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10845192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845193	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10845194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10845195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10845197	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10845198	1.00[JPT][hapmap]
rs11053877	0.82[JPT][hapmap]
rs11053880	0.81[JPT][hapmap]
rs11053881	0.82[JPT][hapmap]
rs11053882	0.82[JPT][hapmap]
rs12306757	0.82[JPT][hapmap]
rs12306815	0.82[JPT][hapmap]
rs12310398	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12316690	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12582745	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs12811247	0.83[JPT][hapmap]
rs1870194	0.82[JPT][hapmap]
rs1979268	0.86[JPT][hapmap]
rs1989218	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1993498	0.81[CEU][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2168746	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs2219382	0.82[JPT][hapmap]
rs2252664	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs2277410	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs2290717	0.96[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs2290718	0.83[JPT][hapmap]
rs2305853	0.82[JPT][hapmap]
rs2418087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2418088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2418089	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2418090	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2418091	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2418092	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2418093	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2418094	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2418095	0.95[CEU][hapmap];0.93[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2900513	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759259	0.85[CEU][hapmap]
rs3759260	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs3759264	0.83[JPT][hapmap]
rs3782671	0.84[EUR][1000 genomes]
rs3782674	0.82[JPT][hapmap]
rs3983439	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4561286	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4763571	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4763573	0.92[CEU][hapmap];0.92[CHB][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4763574	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4763575	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61912160	0.85[EUR][1000 genomes]
rs61912161	0.85[EUR][1000 genomes]
rs61912180	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61912182	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416268	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488317	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71450684	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307408	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7312261	0.83[JPT][hapmap]
rs7313620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7350557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7350597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7486826	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7957041	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7968284	1.00[JPT][hapmap]
rs7969783	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7970299	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7970568	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7971142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8181761	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs897880	0.82[JPT][hapmap]
rs897882	0.83[JPT][hapmap]
rs9988929	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1050613	chr12:10809805-10844399	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10799800-10813800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:10808600-10810600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr12:10809600-10812000	Strong transcription	HUVEC	blood vessel
4	chr12:10809800-10810000	ZNF genes & repeats	HMEC	breast
5	chr12:10809800-10818400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:10809800-10818600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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