Variant report

Variant	rs12293671
Chromosome Location	chr11:3674763-3674764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs12269960	1.00[ASN][1000 genomes]
rs12271649	1.00[ASN][1000 genomes]
rs12277623	1.00[ASN][1000 genomes]
rs12277783	1.00[ASN][1000 genomes]
rs12282367	1.00[ASN][1000 genomes]
rs12284297	1.00[ASN][1000 genomes]
rs12285688	1.00[ASN][1000 genomes]
rs12293639	0.83[AMR][1000 genomes]
rs12295219	1.00[ASN][1000 genomes]
rs16925377	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929762	1.00[ASN][1000 genomes]
rs16929785	1.00[ASN][1000 genomes]
rs2231546	1.00[ASN][1000 genomes]
rs2231547	1.00[ASN][1000 genomes]
rs35404087	1.00[ASN][1000 genomes]
rs35803045	1.00[ASN][1000 genomes]
rs4910530	1.00[ASN][1000 genomes]
rs4910565	1.00[ASN][1000 genomes]
rs4910639	1.00[ASN][1000 genomes]
rs4910654	1.00[ASN][1000 genomes]
rs4910665	1.00[ASN][1000 genomes]
rs4910695	1.00[ASN][1000 genomes]
rs4910711	1.00[ASN][1000 genomes]
rs4910712	1.00[ASN][1000 genomes]
rs4910797	1.00[ASN][1000 genomes]
rs4910798	1.00[ASN][1000 genomes]
rs4910799	1.00[ASN][1000 genomes]
rs4910800	1.00[ASN][1000 genomes]
rs4910805	1.00[ASN][1000 genomes]
rs4910806	1.00[ASN][1000 genomes]
rs4910808	1.00[ASN][1000 genomes]
rs4910810	1.00[ASN][1000 genomes]
rs4910811	1.00[ASN][1000 genomes]
rs4910814	1.00[ASN][1000 genomes]
rs55798582	1.00[ASN][1000 genomes]
rs56702085	1.00[ASN][1000 genomes]
rs60726516	1.00[ASN][1000 genomes]
rs61508984	1.00[ASN][1000 genomes]
rs61751339	1.00[ASN][1000 genomes]
rs61877577	1.00[ASN][1000 genomes]
rs61877578	1.00[ASN][1000 genomes]
rs61877579	1.00[ASN][1000 genomes]
rs61877580	1.00[ASN][1000 genomes]
rs61877581	1.00[ASN][1000 genomes]
rs61877582	1.00[ASN][1000 genomes]
rs61877583	1.00[ASN][1000 genomes]
rs61877584	1.00[ASN][1000 genomes]
rs61877592	1.00[ASN][1000 genomes]
rs61877594	1.00[ASN][1000 genomes]
rs61877598	1.00[ASN][1000 genomes]
rs61878509	1.00[ASN][1000 genomes]
rs61878531	1.00[ASN][1000 genomes]
rs61878539	1.00[ASN][1000 genomes]
rs61878540	1.00[ASN][1000 genomes]
rs61878542	1.00[ASN][1000 genomes]
rs61878543	1.00[ASN][1000 genomes]
rs61878551	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878553	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878554	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878555	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878556	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879789	1.00[ASN][1000 genomes]
rs61879790	1.00[ASN][1000 genomes]
rs61879791	1.00[ASN][1000 genomes]
rs61879792	1.00[ASN][1000 genomes]
rs61879795	1.00[ASN][1000 genomes]
rs61879797	1.00[ASN][1000 genomes]
rs61879798	1.00[ASN][1000 genomes]
rs61879799	1.00[ASN][1000 genomes]
rs61879800	1.00[ASN][1000 genomes]
rs61879801	1.00[ASN][1000 genomes]
rs61879830	1.00[ASN][1000 genomes]
rs61879831	1.00[ASN][1000 genomes]
rs61879832	1.00[ASN][1000 genomes]
rs61879982	1.00[ASN][1000 genomes]
rs61879984	1.00[ASN][1000 genomes]
rs61896917	1.00[ASN][1000 genomes]
rs61896918	1.00[ASN][1000 genomes]
rs61896919	1.00[ASN][1000 genomes]
rs61896920	1.00[ASN][1000 genomes]
rs61896921	1.00[ASN][1000 genomes]
rs61896922	1.00[ASN][1000 genomes]
rs61896923	1.00[ASN][1000 genomes]
rs61896925	1.00[ASN][1000 genomes]
rs61998205	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105207	1.00[ASN][1000 genomes]
rs7111156	1.00[ASN][1000 genomes]
rs7118870	1.00[ASN][1000 genomes]
rs7122294	1.00[ASN][1000 genomes]
rs72844330	1.00[ASN][1000 genomes]
rs72844332	1.00[ASN][1000 genomes]
rs72844335	1.00[ASN][1000 genomes]
rs72844387	1.00[ASN][1000 genomes]
rs72844389	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047763	chr11:2918998-3751029	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	esv2758252	chr11:3236512-3801429	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2759796	chr11:3236512-3801429	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv18699	chr11:3426081-3674989	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832051	chr11:3523947-3728714	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv1820972	chr11:3616884-3801429	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	esv1821329	chr11:3616884-3801429	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv832052	chr11:3616884-3801429	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv428247	chr11:3616884-3801429	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv526441	chr11:3626177-3756686	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1046356	chr11:3628837-3774215	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv1044345	chr11:3628912-3739222	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv540906	chr11:3628912-3739222	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv1044419	chr11:3628912-3751029	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	esv2760179	chr11:3652893-3677096	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv1794767	chr11:3668918-3676005	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv8776	chr11:3669146-3676420	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3332707	chr11:3673876-3677074	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
19	esv3353668	chr11:3673876-3677074	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
20	esv3393517	chr11:3673876-3677074	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
21	esv3398560	chr11:3673876-3677074	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
22	esv3362096	chr11:3673876-3677174	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
23	esv3446921	chr11:3673876-3677274	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3669200-3680200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:3669200-3681400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr11:3671000-3686800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:3673000-3687200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:3674600-3675000	Enhancers	K562	blood

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