Variant report

Variant	rs12067263
Chromosome Location	chr1:57846139-57846140
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10047071	0.93[ASN][1000 genomes]
rs10047072	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10047073	0.93[ASN][1000 genomes]
rs10047177	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10047179	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10493219	0.82[ASN][1000 genomes]
rs1077424	0.82[ASN][1000 genomes]
rs1077425	0.82[ASN][1000 genomes]
rs10889035	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10889036	0.82[ASN][1000 genomes]
rs10889037	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10889039	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10889040	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889041	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889042	0.80[ASN][1000 genomes]
rs11207012	0.82[ASN][1000 genomes]
rs11207013	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11207014	0.82[ASN][1000 genomes]
rs11207015	0.82[ASN][1000 genomes]
rs11207016	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207017	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11207018	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11207021	0.82[ASN][1000 genomes]
rs11207022	0.88[ASN][1000 genomes]
rs11579258	0.82[ASN][1000 genomes]
rs11581250	0.82[ASN][1000 genomes]
rs11585284	0.82[ASN][1000 genomes]
rs11586826	0.82[ASN][1000 genomes]
rs11588755	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11590652	0.85[ASN][1000 genomes]
rs11590708	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12119147	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12119210	0.87[ASN][1000 genomes]
rs12124445	0.82[ASN][1000 genomes]
rs12125219	0.82[ASN][1000 genomes]
rs12126723	0.87[ASN][1000 genomes]
rs12127603	0.82[ASN][1000 genomes]
rs12136107	0.82[ASN][1000 genomes]
rs12137540	0.83[ASN][1000 genomes]
rs12240237	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1240442	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1240443	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12405761	0.93[ASN][1000 genomes]
rs12565446	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12565636	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12741210	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1364444	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1424462	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1424463	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1424464	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1424465	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1424467	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1424468	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1424469	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1424470	0.87[ASN][1000 genomes]
rs1504594	0.82[ASN][1000 genomes]
rs1557222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166514	0.82[ASN][1000 genomes]
rs17115685	0.82[ASN][1000 genomes]
rs17115686	0.82[ASN][1000 genomes]
rs17423255	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17424216	0.82[ASN][1000 genomes]
rs17457873	0.82[ASN][1000 genomes]
rs17458730	0.80[ASN][1000 genomes]
rs17458751	0.80[ASN][1000 genomes]
rs1778032	0.80[ASN][1000 genomes]
rs1778033	0.80[ASN][1000 genomes]
rs1809976	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1834151	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1862925	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2052615	0.85[ASN][1000 genomes]
rs2052616	0.85[ASN][1000 genomes]
rs2052617	0.82[ASN][1000 genomes]
rs2113453	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2113456	0.82[ASN][1000 genomes]
rs2216808	0.90[ASN][1000 genomes]
rs2405696	0.92[ASN][1000 genomes]
rs2405697	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269038	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269039	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269042	0.83[EUR][1000 genomes]
rs269045	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35804651	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3738553	0.83[ASN][1000 genomes]
rs3850549	0.80[ASN][1000 genomes]
rs3850550	0.80[ASN][1000 genomes]
rs3861833	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861834	0.80[ASN][1000 genomes]
rs3896279	0.80[ASN][1000 genomes]
rs3909556	0.82[ASN][1000 genomes]
rs3909557	0.88[ASN][1000 genomes]
rs3909558	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912246	0.80[ASN][1000 genomes]
rs532926	0.80[ASN][1000 genomes]
rs539310	0.80[ASN][1000 genomes]
rs540431	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs553674	0.80[ASN][1000 genomes]
rs564880	0.80[ASN][1000 genomes]
rs564951	0.80[ASN][1000 genomes]
rs565032	0.80[ASN][1000 genomes]
rs566847	0.80[ASN][1000 genomes]
rs567773	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61769668	0.82[ASN][1000 genomes]
rs61769725	0.90[ASN][1000 genomes]
rs6665166	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6669975	0.92[ASN][1000 genomes]
rs6677561	0.87[ASN][1000 genomes]
rs6687934	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6690017	0.88[ASN][1000 genomes]
rs72674892	0.80[ASN][1000 genomes]
rs7513076	0.83[ASN][1000 genomes]
rs7535763	0.92[ASN][1000 genomes]
rs7543805	0.82[ASN][1000 genomes]
rs7547412	0.81[ASN][1000 genomes]
rs7547509	0.86[ASN][1000 genomes]
rs77510	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs77511	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs882283	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs90940	0.82[EUR][1000 genomes];0.86[ASN][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	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
2	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
3	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
4	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
5	nsv954	chr1:57823140-57865799	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57837400-57847600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:57843400-57847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:57843600-57847400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:57843800-57847000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57843800-57847200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:57843800-57847400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:57844000-57846600	Weak transcription	Fetal Brain Male	brain
8	chr1:57844000-57846800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:57844000-57847400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:57844000-57847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:57844000-57847600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:57844000-57848000	Weak transcription	Fetal Heart	heart
13	chr1:57844200-57847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:57844400-57847200	Weak transcription	Fetal Brain Female	brain
15	chr1:57844800-57847000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:57845200-57847200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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