Variant report

Variant	rs17214648
Chromosome Location	chr2:127008046-127008047
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	chr2:127005924..127008963-chr2:127010494..127013764,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28403173	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28407666	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28451252	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28565950	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28613984	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28618670	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28640067	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28667483	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28696992	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28707032	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34355963	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34544790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34598460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34954293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35290103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35469711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35746585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35810412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35895665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56398524	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66912567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68010780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71413442	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs729446	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs729447	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs746000	0.90[AMR][1000 genomes];1.00[EUR][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	nsv1013181	chr2:126451639-127246965	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv997962	chr2:126464195-127234384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1001995	chr2:126506739-127314488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv534297	chr2:126506966-127245682	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874994	chr2:126794403-127056534	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv874995	chr2:126802800-127044904	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv874996	chr2:126802800-127048167	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv874997	chr2:126802800-127056534	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv998475	chr2:126808970-127044986	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv535917	chr2:126808970-127044986	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1013215	chr2:126857279-127127152	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv535918	chr2:126857279-127127152	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv874998	chr2:126917647-127175585	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv583010	chr2:126962441-127079722	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1819894	chr2:127002831-127008196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127007000-127010600	Weak transcription	Fetal Lung	lung

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