Variant report

Variant	rs17048789
Chromosome Location	chr2:57599912-57599913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10496064	0.83[ASN][1000 genomes]
rs11125713	0.80[ASN][1000 genomes]
rs12052763	0.80[ASN][1000 genomes]
rs12620765	0.93[ASN][1000 genomes]
rs12622768	0.93[ASN][1000 genomes]
rs1401255	0.83[ASN][1000 genomes]
rs17048806	0.91[ASN][1000 genomes]
rs33999009	0.96[ASN][1000 genomes]
rs56132105	0.88[ASN][1000 genomes]
rs56376175	0.84[ASN][1000 genomes]
rs56682635	0.96[ASN][1000 genomes]
rs57228556	0.88[ASN][1000 genomes]
rs57426518	0.96[ASN][1000 genomes]
rs59656177	0.90[ASN][1000 genomes]
rs59950669	0.83[ASN][1000 genomes]
rs61321208	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6711831	0.91[ASN][1000 genomes]
rs6731999	0.99[ASN][1000 genomes]
rs7420659	0.80[ASN][1000 genomes]
rs7566482	0.80[ASN][1000 genomes]
rs7591330	0.88[ASN][1000 genomes]
rs7592722	0.80[ASN][1000 genomes]
rs7599407	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7607062	0.93[ASN][1000 genomes]
rs980859	0.80[ASN][1000 genomes]
rs980861	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999898	chr2:57193127-57901238	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535729	chr2:57193127-57901238	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv34506	chr2:57387779-57665629	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv874185	chr2:57446209-57671691	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1001047	chr2:57453353-57659099	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1012285	chr2:57453353-57760750	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874186	chr2:57465803-57671691	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1009898	chr2:57471294-57618855	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv834115	chr2:57474313-57629259	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv874187	chr2:57507510-57703467	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv834126	chr2:57518655-57701015	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1000899	chr2:57537817-57694142	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv582088	chr2:57547114-57626992	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv874188	chr2:57547114-57671691	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv874189	chr2:57552087-57653055	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv874190	chr2:57577034-57671691	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv1007028	chr2:57577746-57629049	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv999103	chr2:57577746-57631325	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1007889	chr2:57582921-57631325	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv874191	chr2:57583029-57671691	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv582089	chr2:57589477-57665702	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv1003020	chr2:57592640-57681816	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv582090	chr2:57595408-57665702	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv998966	chr2:57595475-57659099	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv963976	chr2:57596217-57602238	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57593600-57601000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:57595800-57600000	Weak transcription	HMEC	breast
3	chr2:57598400-57602000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:57599000-57601400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:57599400-57601400	Enhancers	HUVEC	blood vessel
6	chr2:57599600-57600200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:57599600-57601400	Enhancers	NHEK	skin
8	chr2:57599600-57601800	Enhancers	HSMM	muscle
9	chr2:57599600-57601800	Enhancers	NHDF-Ad	bronchial
10	chr2:57599800-57600000	Active TSS	A549	lung
11	chr2:57599800-57601400	Enhancers	HSMMtube	muscle

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