Variant report

Variant	rs12514243
Chromosome Location	chr5:42149561-42149562
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10037143	0.96[ASN][1000 genomes]
rs10078494	1.00[ASN][1000 genomes]
rs10078980	0.83[AMR][1000 genomes]
rs10461734	0.86[ASN][1000 genomes]
rs10461735	0.86[ASN][1000 genomes]
rs1073273	1.00[ASN][1000 genomes]
rs1110874	0.96[ASN][1000 genomes]
rs1119855	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12515833	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12517161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12520405	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12522095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1501515	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1501528	0.91[ASN][1000 genomes]
rs17586491	0.80[ASN][1000 genomes]
rs17586526	0.82[ASN][1000 genomes]
rs17586540	0.82[ASN][1000 genomes]
rs1875430	0.93[ASN][1000 genomes]
rs1909950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs202299	0.82[ASN][1000 genomes]
rs2134102	1.00[ASN][1000 genomes]
rs2161581	0.82[ASN][1000 genomes]
rs276233	0.86[ASN][1000 genomes]
rs276234	0.86[ASN][1000 genomes]
rs276237	0.86[ASN][1000 genomes]
rs276238	0.81[ASN][1000 genomes]
rs276239	0.86[ASN][1000 genomes]
rs276240	0.86[ASN][1000 genomes]
rs276242	0.86[ASN][1000 genomes]
rs276243	0.86[ASN][1000 genomes]
rs276246	0.86[ASN][1000 genomes]
rs276270	0.87[ASN][1000 genomes]
rs276277	0.89[ASN][1000 genomes]
rs276289	0.82[ASN][1000 genomes]
rs276291	0.82[ASN][1000 genomes]
rs276294	0.82[ASN][1000 genomes]
rs276306	0.82[ASN][1000 genomes]
rs276307	0.82[ASN][1000 genomes]
rs276309	0.80[ASN][1000 genomes]
rs276311	0.82[ASN][1000 genomes]
rs276315	0.82[ASN][1000 genomes]
rs36072701	0.90[AMR][1000 genomes]
rs3913458	1.00[ASN][1000 genomes]
rs4342369	0.82[ASN][1000 genomes]
rs4358567	0.82[ASN][1000 genomes]
rs4401612	0.89[ASN][1000 genomes]
rs4590218	0.82[ASN][1000 genomes]
rs4626371	0.95[ASN][1000 genomes]
rs4866812	0.94[AMR][1000 genomes]
rs4957190	0.82[ASN][1000 genomes]
rs4957191	0.82[ASN][1000 genomes]
rs4957192	0.82[ASN][1000 genomes]
rs4957446	0.82[ASN][1000 genomes]
rs4957447	0.82[ASN][1000 genomes]
rs4957449	0.82[ASN][1000 genomes]
rs4957464	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58911119	0.98[ASN][1000 genomes]
rs6451589	0.82[ASN][1000 genomes]
rs6451592	1.00[ASN][1000 genomes]
rs666080	0.86[ASN][1000 genomes]
rs6890248	0.86[ASN][1000 genomes]
rs73091966	0.82[AMR][1000 genomes]
rs73091974	0.83[AMR][1000 genomes]
rs7341123	0.82[ASN][1000 genomes]
rs7379247	0.88[AMR][1000 genomes]
rs7380353	0.96[AMR][1000 genomes]
rs7380870	0.80[AMR][1000 genomes]
rs7708373	0.82[ASN][1000 genomes]
rs7708493	0.82[ASN][1000 genomes]
rs7713544	1.00[ASN][1000 genomes]
rs905097	0.96[ASN][1000 genomes]
rs905099	0.95[ASN][1000 genomes]
rs9292843	0.86[ASN][1000 genomes]
rs931230	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs931231	0.82[ASN][1000 genomes]
rs9654394	0.83[AMR][1000 genomes]
rs990898	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised 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	113 gene(s)	inside rSNPs	diseases
3	nsv1032171	chr5:42015138-42220940	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv462125	chr5:42019110-42192620	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv597885	chr5:42019110-42192620	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1034208	chr5:42119128-42290759	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv969219	chr5:42147728-42169988	ZNF genes & repeats Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42149000-42149800	ZNF genes & repeats	Liver	Liver
2	chr5:42149000-42150000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr5:42149200-42150400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:42149400-42150200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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