Variant report

Variant	rs667681
Chromosome Location	chr1:209914449-209914450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209913450..209916086-chr1:209919671..209921571,2	K562	blood:
2	chr1:209898728..209900231-chr1:209914075..209916050,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1000282	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1000283	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157973	0.87[EUR][1000 genomes]
rs10863783	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10863785	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119327	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119328	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119330	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119331	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119332	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119336	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11485195	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11487866	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11487867	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11806703	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11807619	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11808690	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11811440	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12030655	0.86[EUR][1000 genomes]
rs12034758	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12059226	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12060420	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060922	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12086634	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12090931	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12094117	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12116437	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12120361	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12129718	0.91[EUR][1000 genomes]
rs12138452	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1337531	0.90[EUR][1000 genomes]
rs1415542	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1415544	0.91[EUR][1000 genomes]
rs1474654	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1474655	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17389184	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17389198	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1999826	0.92[EUR][1000 genomes]
rs2064148	0.90[EUR][1000 genomes]
rs2205985	0.89[EUR][1000 genomes]
rs2236903	0.90[EUR][1000 genomes]
rs2272867	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2282738	0.88[EUR][1000 genomes]
rs2282739	0.90[EUR][1000 genomes]
rs2282741	0.90[EUR][1000 genomes]
rs2884090	0.90[EUR][1000 genomes]
rs3765240	0.92[EUR][1000 genomes]
rs3766618	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3766619	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3817821	0.84[EUR][1000 genomes]
rs4314885	0.89[EUR][1000 genomes]
rs4844891	0.90[EUR][1000 genomes]
rs61820570	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs627670	0.85[EUR][1000 genomes]
rs6540550	0.87[EUR][1000 genomes]
rs6540551	0.87[EUR][1000 genomes]
rs6540552	0.85[EUR][1000 genomes]
rs6540553	0.85[EUR][1000 genomes]
rs6665715	0.84[EUR][1000 genomes]
rs6672256	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6679099	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6679405	0.85[EUR][1000 genomes]
rs6702301	0.87[EUR][1000 genomes]
rs6752	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679846	0.83[EUR][1000 genomes]
rs7521461	0.85[EUR][1000 genomes]
rs7532324	0.85[EUR][1000 genomes]
rs7539852	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7548781	0.91[EUR][1000 genomes]
rs7555978	0.87[EUR][1000 genomes]
rs909710	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs932335	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430012	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430014	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430015	0.90[EUR][1000 genomes]
rs9430016	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9430017	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1001588	chr1:209908876-209938243	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209902400-209915000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:209902400-209915400	Weak transcription	Brain Angular Gyrus	brain
3	chr1:209903000-209915200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:209906600-209914800	Weak transcription	Right Atrium	heart
5	chr1:209907600-209914800	Weak transcription	Spleen	Spleen
6	chr1:209907600-209920800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:209907800-209914600	Weak transcription	Right Ventricle	heart
8	chr1:209909800-209914600	Weak transcription	Ovary	ovary
9	chr1:209910600-209914600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:209910800-209915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:209913600-209915200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:209914000-209917200	Enhancers	Liver	Liver
13	chr1:209914200-209914800	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:209914200-209916800	Enhancers	Fetal Intestine Large	intestine
15	chr1:209914200-209916800	Enhancers	Left Ventricle	heart
16	chr1:209914400-209915000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:209914400-209915600	Enhancers	Fetal Heart	heart
18	chr1:209914400-209915600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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