Variant report

Variant	rs11207016
Chromosome Location	chr1:57816224-57816225
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10047071	0.81[CHB][hapmap];1.00[CHD][hapmap]
rs10047072	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10047073	0.81[CHB][hapmap];1.00[CHD][hapmap]
rs10047177	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10047179	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10493219	0.81[CHB][hapmap];0.96[CHD][hapmap]
rs10493221	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1077424	0.88[ASW][hapmap];0.85[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1077425	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889035	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10889036	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889037	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10889038	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap]
rs10889039	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889041	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889042	0.90[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap]
rs11207007	0.82[CEU][hapmap];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];0.96[CHD][hapmap];0.85[ASN][1000 genomes]
rs11207012	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207013	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11207014	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207015	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207017	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11207018	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11207022	0.81[ASN][1000 genomes]
rs11207026	0.90[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap]
rs11207027	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11585751	0.81[CHB][hapmap];0.92[CHD][hapmap]
rs11588755	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11589921	0.86[ASN][1000 genomes]
rs11590708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799925	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12067263	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12085326	0.85[ASN][1000 genomes]
rs12087888	0.81[CHB][hapmap];0.96[CHD][hapmap];0.88[ASN][1000 genomes]
rs12119147	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12119210	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126723	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]
rs12136107	0.81[CHB][hapmap]
rs12137169	0.81[CHB][hapmap];0.96[CHD][hapmap]
rs12139429	0.82[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[ASN][1000 genomes]
rs12240237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1240442	0.90[CHB][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1240443	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12565446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565636	0.96[CEU][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741210	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1364444	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424465	0.88[ASW][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1424466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1424467	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424468	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424470	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504594	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1557222	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs166514	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17115686	0.81[CHB][hapmap];0.96[CHD][hapmap]
rs17115750	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs17423255	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17424216	0.81[CHB][hapmap];0.96[CHD][hapmap]
rs17425017	0.81[CHB][hapmap];0.96[CHD][hapmap]
rs17456661	0.88[CHD][hapmap]
rs17458730	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1778032	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1809976	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1834151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862925	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113453	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2113454	0.91[ASN][1000 genomes]
rs2113456	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2161808	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2216808	0.90[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs2405696	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs2405697	0.88[ASW][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2405994	0.81[CHB][hapmap];0.92[CHD][hapmap]
rs267638	0.92[CHD][hapmap]
rs267647	0.85[CEU][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs267650	0.81[CHB][hapmap];0.96[CHD][hapmap];0.88[ASN][1000 genomes]
rs267651	0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs269038	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs269039	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs269044	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs269045	0.91[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap]
rs269048	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs269049	0.90[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap]
rs269050	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs269057	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs35804651	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3738553	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs3844041	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs3850549	0.90[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap]
rs3850550	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs3850552	0.90[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs3850556	0.88[CHD][hapmap]
rs3861833	0.91[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3861834	0.90[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs3896279	0.90[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap]
rs390203	0.85[CEU][hapmap]
rs3909556	0.81[CHB][hapmap];0.96[CHD][hapmap]
rs3909557	0.81[ASN][1000 genomes]
rs3909558	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs439378	0.92[CHD][hapmap]
rs499339	1.00[JPT][hapmap]
rs532926	0.90[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap]
rs540431	0.91[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap]
rs563099	0.90[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap]
rs563270	0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap]
rs564951	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs565032	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs566847	0.90[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs567773	0.91[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs574726	1.00[JPT][hapmap]
rs61769668	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61769670	0.91[ASN][1000 genomes]
rs61769725	0.83[ASN][1000 genomes]
rs6587767	0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6665166	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6668257	0.85[ASN][1000 genomes]
rs6669975	0.81[ASN][1000 genomes]
rs6677561	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687842	0.82[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[ASN][1000 genomes]
rs6687934	0.88[ASW][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6690017	0.81[ASN][1000 genomes]
rs736109	0.92[CHD][hapmap]
rs746937	0.92[CHD][hapmap]
rs7535763	0.90[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs7543805	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7547412	0.87[ASN][1000 genomes]
rs7547509	0.92[ASN][1000 genomes]
rs77510	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs77511	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs882283	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs90940	0.83[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11207016	C1orf168	cis	cerebellum	SCAN
rs11207016	DAB1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57800000-57826600	Weak transcription	Left Ventricle	heart
2	chr1:57808200-57822400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:57808800-57816600	Weak transcription	Right Ventricle	heart
4	chr1:57811600-57819200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57812800-57817600	Enhancers	Fetal Heart	heart
6	chr1:57814600-57819400	Weak transcription	Lung	lung
7	chr1:57814800-57817600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:57815400-57816600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:57815800-57817600	Enhancers	Fetal Brain Female	brain
10	chr1:57816000-57816400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:57816000-57816400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:57816000-57816800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:57816000-57816800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:57816000-57817000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:57816000-57817000	Enhancers	Fetal Lung	lung
16	chr1:57816000-57817600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:57816200-57816600	Bivalent Enhancer	HSMMtube	muscle
18	chr1:57816200-57816800	Enhancers	Brain Germinal Matrix	brain
19	chr1:57816200-57817400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:57816200-57817600	Enhancers	Fetal Brain Male	brain

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