Variant report

Variant	rs680143
Chromosome Location	chr1:78664060-78664061
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10873966	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11162418	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11162420	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11162421	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11162422	0.95[ASN][1000 genomes]
rs11162423	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11162425	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11584032	0.97[ASN][1000 genomes]
rs12082228	0.96[ASN][1000 genomes]
rs12083265	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12095545	0.82[EUR][1000 genomes]
rs12131414	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12133075	0.92[ASN][1000 genomes]
rs12749252	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1323094	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1359043	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1407747	0.83[ASN][1000 genomes]
rs1407748	0.83[ASN][1000 genomes]
rs1621088	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1625234	0.83[ASN][1000 genomes]
rs1770306	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1770307	0.89[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs1770313	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2025610	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2025611	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2025612	0.93[ASN][1000 genomes]
rs2025613	0.92[ASN][1000 genomes]
rs2025614	0.93[ASN][1000 genomes]
rs2146612	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2208966	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2209472	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2351907	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2351909	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2351910	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2882796	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2882797	0.95[ASN][1000 genomes]
rs2882798	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4258183	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4258184	0.83[ASN][1000 genomes]
rs4268312	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4285658	0.83[ASN][1000 genomes]
rs4396076	0.96[ASN][1000 genomes]
rs4529663	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4587522	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650313	0.97[ASN][1000 genomes]
rs4650315	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650382	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4650607	0.81[ASN][1000 genomes]
rs577978	0.80[JPT][hapmap]
rs581926	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs582795	0.84[ASN][1000 genomes]
rs584660	0.80[JPT][hapmap]
rs585100	0.80[JPT][hapmap]
rs58611517	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs591343	0.86[ASN][1000 genomes]
rs596803	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs597063	0.86[ASN][1000 genomes]
rs597272	0.84[ASN][1000 genomes]
rs599386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs605659	0.80[JPT][hapmap]
rs60588097	0.88[ASN][1000 genomes]
rs610508	0.84[ASN][1000 genomes]
rs614963	0.80[JPT][hapmap]
rs616518	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61777350	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs618063	0.84[ASN][1000 genomes]
rs618581	0.82[ASN][1000 genomes]
rs619749	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs627493	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs627549	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs627661	0.80[JPT][hapmap]
rs633664	0.84[ASN][1000 genomes]
rs634741	0.84[ASN][1000 genomes]
rs638232	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs640124	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs642248	0.80[JPT][hapmap]
rs6424716	0.97[ASN][1000 genomes]
rs6424717	0.97[ASN][1000 genomes]
rs644332	0.81[ASN][1000 genomes]
rs649502	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs651413	0.85[ASN][1000 genomes]
rs653899	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs659902	0.84[ASN][1000 genomes]
rs663254	0.80[JPT][hapmap]
rs675799	0.82[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs677875	0.86[ASN][1000 genomes]
rs680971	0.86[ASN][1000 genomes]
rs683097	0.85[ASN][1000 genomes]
rs684657	0.92[ASN][1000 genomes]
rs684996	0.86[ASN][1000 genomes]
rs688570	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689374	0.95[CEU][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72688712	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7367729	0.94[ASN][1000 genomes]
rs7417073	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7532752	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7555504	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9425188	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1000388	chr1:78638946-78665285	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
5	nsv546600	chr1:78649862-78666990	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78656600-78668800	Weak transcription	Liver	Liver
2	chr1:78657600-78667200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:78657600-78669600	Weak transcription	Pancreas	Pancrea
4	chr1:78659400-78668000	Weak transcription	Fetal Intestine Small	intestine

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