Variant report

Variant	rs4512949
Chromosome Location	chr13:29802562-29802563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1029190	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12429003	0.90[ASN][1000 genomes]
rs1335653	1.00[ASN][1000 genomes]
rs1335654	0.96[ASN][1000 genomes]
rs1335663	1.00[ASN][1000 genomes]
rs1360856	0.89[ASN][1000 genomes]
rs1360857	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1360858	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1541133	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1577475	0.91[ASN][1000 genomes]
rs1577476	0.94[ASN][1000 genomes]
rs1577478	1.00[ASN][1000 genomes]
rs1999717	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2050463	1.00[ASN][1000 genomes]
rs4098154	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4098156	0.84[ASN][1000 genomes]
rs4146404	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146405	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4369507	0.94[ASN][1000 genomes]
rs4444183	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4769005	0.94[ASN][1000 genomes]
rs4769006	1.00[ASN][1000 genomes]
rs4769008	1.00[ASN][1000 genomes]
rs4769688	0.89[ASN][1000 genomes]
rs4769689	0.89[ASN][1000 genomes]
rs4769698	1.00[ASN][1000 genomes]
rs4769699	1.00[ASN][1000 genomes]
rs4769702	1.00[ASN][1000 genomes]
rs4769703	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769704	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490365	0.89[ASN][1000 genomes]
rs6490370	0.94[ASN][1000 genomes]
rs6490376	0.94[ASN][1000 genomes]
rs6490377	0.94[ASN][1000 genomes]
rs6490379	1.00[ASN][1000 genomes]
rs6490380	1.00[ASN][1000 genomes]
rs6490381	0.84[ASN][1000 genomes]
rs7325901	0.89[ASN][1000 genomes]
rs7328586	0.94[ASN][1000 genomes]
rs7981178	1.00[ASN][1000 genomes]
rs7981243	1.00[ASN][1000 genomes]
rs7981300	1.00[ASN][1000 genomes]
rs7981637	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7982062	1.00[ASN][1000 genomes]
rs7982077	1.00[ASN][1000 genomes]
rs7984547	0.88[ASN][1000 genomes]
rs7984562	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985145	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7985337	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7996682	0.98[ASN][1000 genomes]
rs7998019	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999446	1.00[ASN][1000 genomes]
rs7999907	1.00[ASN][1000 genomes]
rs8001430	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314942	1.00[ASN][1000 genomes]
rs9314943	1.00[ASN][1000 genomes]
rs9314944	1.00[ASN][1000 genomes]
rs9506123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508321	1.00[ASN][1000 genomes]
rs9550453	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9550454	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9550455	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579308	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533835	chr13:29141132-29962069	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3406145	chr13:29616606-29917459	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899957	chr13:29720732-29820422	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv427927	chr13:29729315-30062054	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv899958	chr13:29752497-29820422	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv899959	chr13:29752497-29832613	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv976	chr13:29759458-29804146	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3433497	chr13:29786122-29917797	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3347671	chr13:29786276-29922806	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3371345	chr13:29786316-29922762	Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr13:29798400-29806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:29799400-29807400	Weak transcription	Aorta	Aorta
3	chr13:29800800-29803200	Enhancers	Fetal Heart	heart
4	chr13:29801000-29802600	Enhancers	Rectal Smooth Muscle	rectum
5	chr13:29801800-29806200	Weak transcription	Fetal Brain Male	brain
6	chr13:29802000-29804600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:29802400-29803200	Weak transcription	Fetal Stomach	stomach
8	chr13:29802400-29805000	Weak transcription	Colon Smooth Muscle	Colon

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