Variant report

Variant	rs49346
Chromosome Location	chr2:127137329-127137330
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1072913	0.99[EUR][1000 genomes]
rs1072914	0.99[EUR][1000 genomes]
rs11691209	0.80[EUR][1000 genomes]
rs12623955	0.98[ASN][1000 genomes]
rs12623981	0.98[ASN][1000 genomes]
rs12623997	0.97[ASN][1000 genomes]
rs12992542	0.80[EUR][1000 genomes]
rs12998429	0.80[EUR][1000 genomes]
rs13004325	0.80[EUR][1000 genomes]
rs13008269	0.80[EUR][1000 genomes]
rs13031201	0.80[EUR][1000 genomes]
rs168603	0.98[ASN][1000 genomes]
rs168604	0.96[ASN][1000 genomes]
rs17013551	0.80[ASN][1000 genomes]
rs17013571	0.88[ASN][1000 genomes]
rs17013747	0.98[ASN][1000 genomes]
rs17013748	0.98[ASN][1000 genomes]
rs17013750	0.98[ASN][1000 genomes]
rs17013752	0.98[ASN][1000 genomes]
rs17013753	0.98[ASN][1000 genomes]
rs17013755	0.98[ASN][1000 genomes]
rs17013756	0.98[ASN][1000 genomes]
rs187215	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1905386	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs191698	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896782	1.00[ASN][1000 genomes]
rs34791136	0.80[EUR][1000 genomes]
rs359682	0.91[ASN][1000 genomes]
rs359683	0.92[ASN][1000 genomes]
rs359689	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs359690	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs359694	0.98[ASN][1000 genomes]
rs359695	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs359696	0.97[ASN][1000 genomes]
rs359697	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs359698	0.98[ASN][1000 genomes]
rs359699	0.97[ASN][1000 genomes]
rs359702	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360261	0.82[ASN][1000 genomes]
rs360264	0.82[ASN][1000 genomes]
rs360265	0.82[ASN][1000 genomes]
rs360268	0.82[ASN][1000 genomes]
rs360269	0.84[ASN][1000 genomes]
rs360272	0.86[ASN][1000 genomes]
rs360273	0.86[ASN][1000 genomes]
rs360274	0.86[ASN][1000 genomes]
rs360275	0.86[ASN][1000 genomes]
rs360280	0.86[ASN][1000 genomes]
rs360283	0.88[ASN][1000 genomes]
rs360289	0.88[ASN][1000 genomes]
rs360294	0.89[ASN][1000 genomes]
rs360315	0.89[ASN][1000 genomes]
rs373314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429970	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4346328	0.89[ASN][1000 genomes]
rs450184	0.91[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4513242	0.89[ASN][1000 genomes]
rs4592797	0.88[ASN][1000 genomes]
rs55656522	0.89[ASN][1000 genomes]
rs55753332	1.00[ASN][1000 genomes]
rs56035712	0.97[ASN][1000 genomes]
rs56242352	0.98[ASN][1000 genomes]
rs60155213	1.00[ASN][1000 genomes]
rs60323577	0.98[ASN][1000 genomes]
rs60389409	0.98[ASN][1000 genomes]
rs67070425	0.80[EUR][1000 genomes]
rs6748721	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6757298	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72965980	0.98[ASN][1000 genomes]
rs72965981	0.98[ASN][1000 genomes]
rs72965983	0.98[ASN][1000 genomes]
rs72965984	0.98[ASN][1000 genomes]
rs72965987	0.98[ASN][1000 genomes]
rs72965992	0.98[ASN][1000 genomes]
rs72965993	0.98[ASN][1000 genomes]
rs72967704	1.00[ASN][1000 genomes]
rs72967706	1.00[ASN][1000 genomes]
rs73953860	0.98[ASN][1000 genomes]
rs73953865	0.98[ASN][1000 genomes]
rs7595600	0.98[ASN][1000 genomes]
rs7595619	0.98[ASN][1000 genomes]
rs7600474	0.99[ASN][1000 genomes]
rs7604200	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127136400-127137600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:127136600-127137600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:127136800-127137400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:127136800-127137400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:127136800-127137600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr2:127136800-127137600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:127136800-127137600	Enhancers	Ovary	ovary
8	chr2:127136800-127138600	Enhancers	Fetal Lung	lung
9	chr2:127137000-127137400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:127137000-127137400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:127137000-127137600	Enhancers	Pancreas	Pancrea

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