Variant report

Variant	rs12126723
Chromosome Location	chr1:57814331-57814332
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10047071	0.81[CHB][hapmap]
rs10047072	0.87[ASN][1000 genomes]
rs10047073	0.81[CHB][hapmap]
rs10047177	0.85[ASN][1000 genomes]
rs10047179	0.85[ASN][1000 genomes]
rs10493219	0.81[CHB][hapmap]
rs10493221	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs1077424	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1077425	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889035	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10889036	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889037	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10889038	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap]
rs10889039	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10889042	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs11207007	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11207010	0.81[CHB][hapmap];0.88[ASN][1000 genomes]
rs11207011	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs11207012	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207013	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11207014	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207015	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207016	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207017	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11207018	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11207022	0.81[ASN][1000 genomes]
rs11207026	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs11207027	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1149630	0.82[EUR][1000 genomes]
rs11585751	0.81[CHB][hapmap]
rs11588755	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11589921	0.86[ASN][1000 genomes]
rs11590708	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799925	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12067263	0.87[ASN][1000 genomes]
rs12085326	0.85[ASN][1000 genomes]
rs12087888	0.81[CHB][hapmap];0.88[ASN][1000 genomes]
rs12119147	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12119210	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136107	0.81[CHB][hapmap]
rs12137169	0.81[CHB][hapmap]
rs12139429	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12240237	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1240439	0.83[EUR][1000 genomes]
rs1240442	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs1240443	0.87[ASN][1000 genomes]
rs12405761	0.80[CHB][hapmap]
rs12565446	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565636	0.84[CEU][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741210	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1364444	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424462	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424463	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424464	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424465	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1424466	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1424467	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424468	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424469	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504594	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1557222	0.87[ASN][1000 genomes]
rs166514	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17115686	0.81[CHB][hapmap]
rs17115750	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs17423255	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17424216	0.81[CHB][hapmap]
rs17425017	0.81[CHB][hapmap]
rs17458730	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs1778032	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1809976	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1834151	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862925	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113453	0.88[ASN][1000 genomes]
rs2113454	0.91[ASN][1000 genomes]
rs2113456	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2161808	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2216808	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs2405696	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs2405697	0.91[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs2405994	0.81[CHB][hapmap]
rs267646	0.83[EUR][1000 genomes]
rs267647	0.92[CEU][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs267650	0.81[CHB][hapmap];0.88[ASN][1000 genomes]
rs267651	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs269038	0.91[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs269039	0.87[ASN][1000 genomes]
rs269044	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs269045	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs269048	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs269049	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs269050	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs269057	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs35804651	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3738553	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs374845	0.82[EUR][1000 genomes]
rs3844041	0.88[CHB][hapmap]
rs3850549	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs3850550	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs3850552	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs3861833	0.91[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs3861834	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs3896279	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs390203	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs3909556	0.81[CHB][hapmap]
rs3909557	0.81[ASN][1000 genomes]
rs3909558	0.87[ASN][1000 genomes]
rs439378	0.83[EUR][1000 genomes]
rs499339	1.00[JPT][hapmap]
rs532926	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs540431	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs563099	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs563270	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs564951	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs565032	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs566847	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs567773	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs574726	1.00[JPT][hapmap]
rs61769668	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61769670	0.91[ASN][1000 genomes]
rs61769725	0.83[ASN][1000 genomes]
rs6587767	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6665166	0.95[ASN][1000 genomes]
rs6668257	0.85[ASN][1000 genomes]
rs6669975	0.81[ASN][1000 genomes]
rs6677561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687842	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6687934	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6690017	0.81[ASN][1000 genomes]
rs736109	0.82[EUR][1000 genomes]
rs736110	0.82[EUR][1000 genomes]
rs746937	0.81[EUR][1000 genomes]
rs7535763	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs7543805	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7547412	0.87[ASN][1000 genomes]
rs7547509	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs77510	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs77511	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs882283	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs90940	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs94216	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv871530	chr1:57793948-57858319	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv871968	chr1:57803349-57858319	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57800000-57826600	Weak transcription	Left Ventricle	heart
2	chr1:57803200-57816000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:57807600-57814800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:57808200-57822400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:57808800-57816600	Weak transcription	Right Ventricle	heart
6	chr1:57810800-57814600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:57811600-57819200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:57811800-57816200	Weak transcription	Fetal Brain Male	brain
9	chr1:57812400-57815200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:57812800-57814800	Enhancers	Fetal Brain Female	brain
11	chr1:57812800-57817600	Enhancers	Fetal Heart	heart
12	chr1:57813600-57816200	Weak transcription	Brain Germinal Matrix	brain
13	chr1:57814200-57814800	Enhancers	HUES6 Cell Line	embryonic stem cell

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