Variant report

Variant	rs243417
Chromosome Location	chr2:127126224-127126225
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	chr2:127120628..127123048-chr2:127125032..127126984,2	K562	blood:
2	chr2:127120628..127123970-chr2:127125032..127127562,3	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11674115	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11674405	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11675808	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11682924	0.87[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11684235	0.87[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11687739	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11688466	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11688974	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11690602	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11691311	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11691316	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11693558	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11694971	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11695746	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12990559	0.87[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12999041	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12999792	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13001087	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13001283	0.83[EUR][1000 genomes]
rs13001322	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13008004	0.83[AMR][1000 genomes]
rs13008414	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13010045	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13020607	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13020846	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13023737	0.83[AMR][1000 genomes]
rs13027486	0.87[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13034164	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13034200	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13034238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17281203	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34062495	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34087027	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34228135	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34731630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34737330	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34875932	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34939949	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34961369	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34971908	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34981967	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35432246	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35486466	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35506144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35683961	0.83[AMR][1000 genomes]
rs35876832	0.84[EUR][1000 genomes]
rs359688	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs359703	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs359704	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs359705	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs359706	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs359708	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs360292	0.89[MEX][hapmap]
rs360293	0.80[CEU][hapmap]
rs360296	0.80[CEU][hapmap]
rs360299	0.80[CEU][hapmap]
rs360302	0.80[CEU][hapmap]
rs360303	0.80[CEU][hapmap]
rs360307	0.80[CEU][hapmap]
rs360308	0.80[CEU][hapmap];0.89[MEX][hapmap]
rs36061035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56332215	0.83[AMR][1000 genomes]
rs66530889	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66701958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66815786	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67155347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67292864	0.80[AMR][1000 genomes]
rs71413444	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72831488	0.83[AMR][1000 genomes]
rs72841597	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv2757831	chr2:127033017-127161094	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv2759089	chr2:127033017-127161094	Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv874999	chr2:127068140-127218915	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv834364	chr2:127100752-127267070	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127123000-127127400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:127125600-127126400	Enhancers	Duodenum Mucosa	Duodenum
3	chr2:127125800-127126800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:127125800-127127000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:127125800-127128400	Enhancers	Adipose Nuclei	Adipose
6	chr2:127126000-127126800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:127126200-127127600	Weak transcription	Pancreas	Pancrea
8	chr2:127126200-127128000	Enhancers	Fetal Muscle Leg	muscle

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