Variant report

Variant	rs4513242
Chromosome Location	chr2:127080194-127080195
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127069123..127070890-chr2:127079088..127081471,2	K562	blood:
2	chr2:127077598..127081190-chr2:127081547..127085586,3	K562	blood:
3	chr2:127067247..127071190-chr2:127077622..127082777,4	K562	blood:

Variant related genes	Relation type
ENSG00000236655	Chromatin interaction
ENSG00000235774	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10928762	0.90[ASN][1000 genomes]
rs11896176	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12623955	0.91[ASN][1000 genomes]
rs12623981	0.91[ASN][1000 genomes]
rs12623997	0.90[ASN][1000 genomes]
rs168603	0.91[ASN][1000 genomes]
rs168604	0.91[ASN][1000 genomes]
rs17013551	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17013571	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17013747	0.91[ASN][1000 genomes]
rs17013748	0.91[ASN][1000 genomes]
rs17013750	0.91[ASN][1000 genomes]
rs17013752	0.91[ASN][1000 genomes]
rs17013753	0.91[ASN][1000 genomes]
rs17013755	0.91[ASN][1000 genomes]
rs17013756	0.91[ASN][1000 genomes]
rs187215	0.89[ASN][1000 genomes]
rs1905386	0.92[ASN][1000 genomes]
rs191698	0.89[ASN][1000 genomes]
rs2896782	0.89[ASN][1000 genomes]
rs359682	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs359683	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs359689	0.84[ASN][1000 genomes]
rs359690	0.89[ASN][1000 genomes]
rs359694	0.91[ASN][1000 genomes]
rs359695	0.89[ASN][1000 genomes]
rs359696	0.89[ASN][1000 genomes]
rs359697	0.91[ASN][1000 genomes]
rs359698	0.91[ASN][1000 genomes]
rs359699	0.92[ASN][1000 genomes]
rs359702	0.89[ASN][1000 genomes]
rs360231	0.90[ASN][1000 genomes]
rs360237	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs360246	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs360259	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs360261	0.92[ASN][1000 genomes]
rs360264	0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs360265	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs360268	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs360269	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs360272	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs360273	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs360274	0.97[ASN][1000 genomes]
rs360275	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs360276	0.88[CHB][hapmap]
rs360280	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs360283	0.99[ASN][1000 genomes]
rs360289	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs360294	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs360315	1.00[ASN][1000 genomes]
rs360390	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs360391	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs373314	0.89[ASN][1000 genomes]
rs4346328	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592797	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs49346	0.89[ASN][1000 genomes]
rs55656522	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55753332	0.89[ASN][1000 genomes]
rs56035712	0.87[ASN][1000 genomes]
rs56242352	0.91[ASN][1000 genomes]
rs56365289	0.92[EUR][1000 genomes]
rs59340001	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60155213	0.89[ASN][1000 genomes]
rs60323577	0.91[ASN][1000 genomes]
rs60389409	0.91[ASN][1000 genomes]
rs66914537	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6756754	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6757298	0.91[ASN][1000 genomes]
rs68160725	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72965980	0.91[ASN][1000 genomes]
rs72965981	0.91[ASN][1000 genomes]
rs72965983	0.91[ASN][1000 genomes]
rs72965984	0.91[ASN][1000 genomes]
rs72965987	0.91[ASN][1000 genomes]
rs72965992	0.91[ASN][1000 genomes]
rs72965993	0.91[ASN][1000 genomes]
rs72967704	0.89[ASN][1000 genomes]
rs72967706	0.89[ASN][1000 genomes]
rs73953860	0.91[ASN][1000 genomes]
rs73953865	0.91[ASN][1000 genomes]
rs7568138	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7595600	0.91[ASN][1000 genomes]
rs7595619	0.91[ASN][1000 genomes]
rs7600474	0.90[ASN][1000 genomes]
rs7604200	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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