Variant report

Variant	rs516753
Chromosome Location	chr1:74731736-74731737
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	chr1:74725032..74727117-chr1:74729630..74732086,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10890126	1.00[AFR][1000 genomes]
rs1341576	0.89[AFR][1000 genomes]
rs1358376	1.00[AFR][1000 genomes]
rs1358377	1.00[AFR][1000 genomes]
rs1361591	1.00[AFR][1000 genomes]
rs1417890	1.00[AFR][1000 genomes]
rs1527685	1.00[AFR][1000 genomes]
rs1832810	1.00[AFR][1000 genomes]
rs1868562	1.00[AFR][1000 genomes]
rs1935126	1.00[AFR][1000 genomes]
rs2091459	1.00[AFR][1000 genomes]
rs2880795	1.00[AFR][1000 genomes]
rs472315	1.00[AFR][1000 genomes]
rs489158	1.00[AFR][1000 genomes]
rs489278	1.00[AFR][1000 genomes]
rs495819	1.00[AFR][1000 genomes]
rs501159	1.00[AFR][1000 genomes]
rs501694	0.89[AFR][1000 genomes]
rs508210	1.00[AFR][1000 genomes]
rs508717	1.00[AFR][1000 genomes]
rs509849	1.00[AFR][1000 genomes]
rs509953	1.00[AFR][1000 genomes]
rs510010	1.00[AFR][1000 genomes]
rs517095	1.00[AFR][1000 genomes]
rs519403	1.00[AFR][1000 genomes]
rs520554	1.00[AFR][1000 genomes]
rs532844	1.00[AFR][1000 genomes]
rs533783	1.00[AFR][1000 genomes]
rs536493	1.00[AFR][1000 genomes]
rs540845	1.00[AFR][1000 genomes]
rs546384	1.00[AFR][1000 genomes]
rs549521	1.00[AFR][1000 genomes]
rs553594	1.00[AFR][1000 genomes]
rs555873	1.00[AFR][1000 genomes]
rs558756	1.00[AFR][1000 genomes]
rs564254	1.00[AFR][1000 genomes]
rs570363	1.00[AFR][1000 genomes]
rs577308	1.00[AFR][1000 genomes]
rs6424580	1.00[AFR][1000 genomes]
rs6424581	1.00[AFR][1000 genomes]
rs6424588	1.00[AFR][1000 genomes]
rs6694833	1.00[AFR][1000 genomes]
rs7530846	1.00[AFR][1000 genomes]
rs7541440	1.00[AFR][1000 genomes]
rs7549166	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004451	chr1:74107125-74874389	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv534999	chr1:74107125-74874389	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv428785	chr1:74640545-74818577	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv870486	chr1:74654182-74804833	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv870554	chr1:74678285-74804833	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv523474	chr1:74699099-74794119	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv870653	chr1:74718578-74793878	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1007414	chr1:74726454-74976335	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv535002	chr1:74726454-74976335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74671400-74751800	Weak transcription	Ovary	ovary
2	chr1:74717000-74751800	Weak transcription	Aorta	Aorta
3	chr1:74719600-74753800	Weak transcription	Right Ventricle	heart
4	chr1:74723800-74731800	Weak transcription	Gastric	stomach
5	chr1:74724200-74746400	Weak transcription	Left Ventricle	heart
6	chr1:74730800-74731800	Genic enhancers	Fetal Heart	heart
7	chr1:74730800-74733200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:74731400-74731800	Enhancers	Brain Hippocampus Middle	brain
9	chr1:74731400-74732200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:74731600-74732200	Enhancers	Brain Angular Gyrus	brain

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