Variant report

Variant	rs3118137
Chromosome Location	chr1:92653461-92653462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10158958	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10159094	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10747503	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783109	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875204	0.90[ASN][1000 genomes]
rs10875209	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875214	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875349	0.80[ASN][1000 genomes]
rs11164288	0.80[ASN][1000 genomes]
rs11166141	0.90[ASN][1000 genomes]
rs11166144	0.90[ASN][1000 genomes]
rs11166184	0.90[ASN][1000 genomes]
rs11166218	0.83[EUR][1000 genomes]
rs1157469	0.83[EUR][1000 genomes]
rs1157470	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11803457	0.80[ASN][1000 genomes]
rs12086394	0.80[ASN][1000 genomes]
rs12119246	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1226176	0.90[ASN][1000 genomes]
rs1226183	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1466514	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1483022	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1487536	0.80[ASN][1000 genomes]
rs1542685	0.80[ASN][1000 genomes]
rs1601020	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1601021	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1601023	0.90[ASN][1000 genomes]
rs1872007	0.90[ASN][1000 genomes]
rs1982720	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2093879	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2128645	0.90[ASN][1000 genomes]
rs2209337	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391114	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391116	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2839877	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2893200	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3103178	0.80[ASN][1000 genomes]
rs3131814	0.80[ASN][1000 genomes]
rs3851271	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3851272	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3851273	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3929737	0.80[ASN][1000 genomes]
rs4261159	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4393167	0.80[ASN][1000 genomes]
rs4414050	0.80[ASN][1000 genomes]
rs4437922	0.90[ASN][1000 genomes]
rs4623754	0.90[ASN][1000 genomes]
rs4658127	0.90[ASN][1000 genomes]
rs4658128	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4658129	0.90[ASN][1000 genomes]
rs4658290	0.90[ASN][1000 genomes]
rs4658291	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4658300	0.80[ASN][1000 genomes]
rs506377	0.85[ASN][1000 genomes]
rs515280	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs519932	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs539288	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs556980	0.90[ASN][1000 genomes]
rs560389	0.90[ASN][1000 genomes]
rs569593	0.90[ASN][1000 genomes]
rs570368	0.90[ASN][1000 genomes]
rs6603962	0.80[ASN][1000 genomes]
rs6604080	0.85[EUR][1000 genomes]
rs6604082	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604088	0.80[ASN][1000 genomes]
rs6604090	0.80[ASN][1000 genomes]
rs6661384	0.80[ASN][1000 genomes]
rs6663278	0.80[ASN][1000 genomes]
rs6668803	0.80[ASN][1000 genomes]
rs6677184	0.90[ASN][1000 genomes]
rs6684317	0.90[ASN][1000 genomes]
rs6699855	0.80[ASN][1000 genomes]
rs6702267	0.80[ASN][1000 genomes]
rs733012	0.80[ASN][1000 genomes]
rs745793	0.80[ASN][1000 genomes]
rs7517541	0.80[ASN][1000 genomes]
rs7518974	0.80[ASN][1000 genomes]
rs7520275	0.80[ASN][1000 genomes]
rs7529835	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7533077	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7537221	0.90[ASN][1000 genomes]
rs7541482	0.90[ASN][1000 genomes]
rs7542358	0.90[ASN][1000 genomes]
rs7542373	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7543947	0.80[ASN][1000 genomes]
rs7549158	0.85[ASN][1000 genomes]
rs9661633	0.85[ASN][1000 genomes]
rs981583	0.90[ASN][1000 genomes]
rs9943178	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92626600-92657400	Weak transcription	Right Ventricle	heart
2	chr1:92642400-92662600	Weak transcription	NHDF-Ad	bronchial
3	chr1:92647200-92653600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:92647200-92655800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:92648000-92654000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:92650600-92655200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:92650800-92657400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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