Variant report

Variant	rs360237
Chromosome Location	chr2:127046572-127046573
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	chr2:127027819..127029825-chr2:127044636..127047534,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10928762	1.00[ASN][1000 genomes]
rs11896176	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623955	0.81[ASN][1000 genomes]
rs12623981	0.81[ASN][1000 genomes]
rs168603	0.81[ASN][1000 genomes]
rs168604	0.81[ASN][1000 genomes]
rs17013551	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17013571	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17013747	0.81[ASN][1000 genomes]
rs17013748	0.81[ASN][1000 genomes]
rs17013750	0.81[ASN][1000 genomes]
rs17013752	0.81[ASN][1000 genomes]
rs17013753	0.81[ASN][1000 genomes]
rs17013755	0.81[ASN][1000 genomes]
rs17013756	0.81[ASN][1000 genomes]
rs1905386	0.82[ASN][1000 genomes]
rs359682	0.87[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs359683	0.87[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs359694	0.81[ASN][1000 genomes]
rs359697	0.81[ASN][1000 genomes]
rs359698	0.81[ASN][1000 genomes]
rs359699	0.82[ASN][1000 genomes]
rs360231	1.00[ASN][1000 genomes]
rs360246	0.82[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs360259	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360260	0.82[ASN][1000 genomes]
rs360261	0.97[ASN][1000 genomes]
rs360264	0.94[CHB][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs360265	0.94[CHB][hapmap];0.88[JPT][hapmap];0.96[ASN][1000 genomes]
rs360268	0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs360269	0.87[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs360272	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs360273	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs360274	0.93[ASN][1000 genomes]
rs360275	0.88[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs360280	0.88[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs360283	0.91[ASN][1000 genomes]
rs360289	0.87[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs360294	0.88[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs360315	0.90[ASN][1000 genomes]
rs360390	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs360391	1.00[CEU][hapmap];0.83[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4346328	0.88[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4513242	0.94[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4592797	0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs55656522	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56242352	0.81[ASN][1000 genomes]
rs56365289	0.97[EUR][1000 genomes]
rs59340001	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60323577	0.81[ASN][1000 genomes]
rs60389409	0.81[ASN][1000 genomes]
rs66914537	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756754	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757298	0.81[ASN][1000 genomes]
rs68160725	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965980	0.81[ASN][1000 genomes]
rs72965981	0.81[ASN][1000 genomes]
rs72965983	0.81[ASN][1000 genomes]
rs72965984	0.81[ASN][1000 genomes]
rs72965987	0.81[ASN][1000 genomes]
rs72965992	0.81[ASN][1000 genomes]
rs72965993	0.81[ASN][1000 genomes]
rs73953860	0.81[ASN][1000 genomes]
rs73953865	0.81[ASN][1000 genomes]
rs7568138	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595600	0.81[ASN][1000 genomes]
rs7595619	0.81[ASN][1000 genomes]
rs7604200	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv3459766	chr2:127044810-127047270	Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
17	esv3459767	chr2:127044810-127047270	Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127046200-127055400	Weak transcription	K562	blood

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