Variant report

Variant	rs1497191
Chromosome Location	chr12:42161906-42161907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1032587	0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10748317	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10785290	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1390998	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1497188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1546193	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1553033	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1845976	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4595607	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768007	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768369	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768370	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768374	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6582363	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7299055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126166	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73128112	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7962219	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968184	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7978877	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7980720	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs904075	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv832386	chr12:42017259-42189476	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv899045	chr12:42118062-42174431	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1047870	chr12:42158954-42254373	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
7	nsv1041975	chr12:42159517-42254373	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
8	nsv1037646	chr12:42160758-42254373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42158600-42165600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:42161000-42162000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:42161200-42162000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr12:42161200-42162000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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