Variant report

Variant	rs17456661
Chromosome Location	chr1:57799633-57799634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:57797489..57800179-chr1:57802405..57805312,2	K562	blood:
2	chr1:57798562..57800179-chr1:57803164..57805312,2	K562	blood:
3	chr1:57793484..57795323-chr1:57799611..57801917,2	K562	blood:

Extended variants
information (count: 149 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10047071	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs10047073	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs10493219	0.90[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs10493221	0.80[CHB][hapmap]
rs10493225	1.00[JPT][hapmap]
rs1077424	0.82[CHB][hapmap];0.92[CHD][hapmap];0.85[ASN][1000 genomes]
rs1077425	0.85[ASN][1000 genomes]
rs10889034	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10889035	0.82[ASN][1000 genomes]
rs10889036	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs10889038	0.88[CHD][hapmap]
rs10889039	0.88[CHD][hapmap]
rs10889042	0.80[CHB][hapmap];0.92[CHD][hapmap]
rs10889044	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs11207007	0.90[CHB][hapmap];0.91[ASN][1000 genomes]
rs11207010	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11207011	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11207012	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs11207013	0.82[ASN][1000 genomes]
rs11207014	0.85[ASN][1000 genomes]
rs11207015	0.85[ASN][1000 genomes]
rs11207016	0.88[CHD][hapmap]
rs11207020	0.85[ASN][1000 genomes]
rs11207021	0.83[ASN][1000 genomes]
rs11207026	0.80[CHB][hapmap];0.92[CHD][hapmap]
rs11207027	0.82[CHB][hapmap]
rs11579258	0.83[ASN][1000 genomes]
rs11581250	0.83[ASN][1000 genomes]
rs11585284	0.83[ASN][1000 genomes]
rs11585751	0.90[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs11586826	0.83[ASN][1000 genomes]
rs11589921	0.93[ASN][1000 genomes]
rs11799925	0.80[CHB][hapmap];0.87[ASN][1000 genomes]
rs12044912	1.00[JPT][hapmap]
rs12046102	1.00[JPT][hapmap]
rs12061812	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085326	0.88[ASN][1000 genomes]
rs12087888	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12119210	0.88[CHD][hapmap]
rs12124445	0.83[ASN][1000 genomes]
rs12125219	0.83[ASN][1000 genomes]
rs12127603	0.83[ASN][1000 genomes]
rs12128305	0.96[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12132685	1.00[JPT][hapmap]
rs12136107	0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12137169	0.90[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap]
rs12137540	0.82[ASN][1000 genomes]
rs12137583	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139429	0.80[CHB][hapmap];0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs12142821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12240237	0.86[JPT][hapmap]
rs1240439	0.81[ASN][1000 genomes]
rs1240442	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs12405761	0.86[JPT][hapmap]
rs12566690	0.85[ASN][1000 genomes]
rs12568449	1.00[JPT][hapmap]
rs12726704	1.00[JPT][hapmap]
rs12752978	1.00[JPT][hapmap]
rs1334239	1.00[JPT][hapmap]
rs1334240	1.00[JPT][hapmap]
rs1424463	0.84[JPT][hapmap]
rs1424465	0.88[CHD][hapmap]
rs1424467	0.88[CHD][hapmap];0.85[JPT][hapmap]
rs1504594	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs166514	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17115685	0.83[ASN][1000 genomes]
rs17115686	0.90[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs17115750	0.80[CHB][hapmap]
rs17423255	0.88[CHD][hapmap]
rs17424216	0.90[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.83[ASN][1000 genomes]
rs17425017	0.90[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap]
rs17425189	1.00[JPT][hapmap]
rs17457873	0.83[ASN][1000 genomes]
rs17458730	0.80[CHB][hapmap]
rs17459384	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17459948	1.00[JPT][hapmap]
rs1809976	0.82[ASN][1000 genomes]
rs1862925	0.88[CHD][hapmap]
rs2052617	0.83[ASN][1000 genomes]
rs2113454	0.87[ASN][1000 genomes]
rs2113456	0.85[ASN][1000 genomes]
rs2161808	0.82[ASN][1000 genomes]
rs2216808	0.80[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs2405696	0.86[JPT][hapmap]
rs2405697	0.88[CHD][hapmap]
rs2405994	0.90[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs267638	0.80[CHD][hapmap];1.00[JPT][hapmap]
rs267646	0.81[ASN][1000 genomes]
rs267647	0.80[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs267650	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs267651	0.82[CHB][hapmap];0.96[CHD][hapmap];0.90[ASN][1000 genomes]
rs269038	0.88[CHD][hapmap]
rs269045	0.84[CHD][hapmap]
rs269048	0.80[CHB][hapmap]
rs269049	0.80[CHB][hapmap];0.92[CHD][hapmap]
rs2781325	1.00[JPT][hapmap]
rs28706213	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35804651	0.82[ASN][1000 genomes]
rs3738553	0.80[CHB][hapmap]
rs3844041	0.81[CHD][hapmap]
rs3850549	0.80[CHB][hapmap];0.92[CHD][hapmap]
rs3850552	0.80[CHB][hapmap];0.88[CHD][hapmap]
rs3850556	0.84[CHD][hapmap]
rs3861834	0.80[CHB][hapmap];0.88[CHD][hapmap]
rs3896279	0.80[CHB][hapmap];0.92[CHD][hapmap]
rs390203	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3909556	0.90[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs4279875	1.00[JPT][hapmap]
rs439378	0.80[CHD][hapmap];1.00[JPT][hapmap]
rs4912162	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912237	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912244	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs532926	0.80[CHB][hapmap];0.92[CHD][hapmap]
rs540431	0.84[CHD][hapmap]
rs55863020	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563099	0.80[CHB][hapmap];0.92[CHD][hapmap]
rs563270	0.80[CHB][hapmap];0.91[CHD][hapmap]
rs564951	0.86[CHB][hapmap]
rs565032	0.80[CHB][hapmap]
rs566847	0.80[CHB][hapmap];0.88[CHD][hapmap]
rs567773	0.88[CHD][hapmap]
rs61769668	0.85[ASN][1000 genomes]
rs61769670	0.87[ASN][1000 genomes]
rs6587767	0.82[CHB][hapmap];0.96[CHD][hapmap];0.90[ASN][1000 genomes]
rs6668257	0.91[ASN][1000 genomes]
rs6669975	1.00[JPT][hapmap]
rs6687842	0.80[CHB][hapmap];0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs6687934	0.88[CHD][hapmap]
rs72674872	0.89[ASN][1000 genomes]
rs736109	0.80[CHD][hapmap];1.00[JPT][hapmap]
rs736110	1.00[JPT][hapmap]
rs746937	0.80[CHD][hapmap];1.00[JPT][hapmap]
rs7513076	0.80[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7528735	0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs7535763	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs7540817	0.85[ASN][1000 genomes]
rs7543805	0.85[ASN][1000 genomes]
rs7547509	0.82[ASN][1000 genomes]
rs77510	0.82[ASN][1000 genomes]
rs77511	0.82[ASN][1000 genomes]
rs882283	0.82[ASN][1000 genomes]
rs90940	0.92[CHD][hapmap];0.82[ASN][1000 genomes]
rs924848	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9436130	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17456661	DAB1	cis	cerebellum	SCAN
rs17456661	DIO1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57792400-57806200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57794000-57801400	Weak transcription	Fetal Brain Male	brain
3	chr1:57799200-57801600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:57799600-57800000	Enhancers	Right Ventricle	heart

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