Variant report

Variant	rs2179973
Chromosome Location	chr14:39915308-39915309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39904079..39906204-chr14:39915198..39917525,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10047876	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10130181	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10132190	0.85[ASN][1000 genomes]
rs10133746	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs10134065	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10136490	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs10136915	0.90[ASN][1000 genomes]
rs10140997	1.00[CHB][hapmap]
rs10142029	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10143148	0.88[ASN][1000 genomes]
rs10144377	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10145757	0.85[ASN][1000 genomes]
rs10146106	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10146622	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10220689	1.00[CHB][hapmap]
rs10483538	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12185014	0.88[ASN][1000 genomes]
rs12431558	0.81[ASN][1000 genomes]
rs12433987	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12437261	1.00[CHB][hapmap]
rs17109168	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs17622868	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955716	0.82[CHB][hapmap]
rs1998885	0.85[CHB][hapmap]
rs1998886	0.85[CHB][hapmap]
rs2103795	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28398804	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419351	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28568594	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28571663	0.85[ASN][1000 genomes]
rs28704775	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28871954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899887	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4316662	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4902458	1.00[CHB][hapmap]
rs4902559	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs61999073	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61999077	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61999079	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62000696	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62000708	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62000709	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62000710	0.85[ASN][1000 genomes]
rs62000711	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62000715	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62000720	0.82[ASN][1000 genomes]
rs62001106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62015674	0.90[ASN][1000 genomes]
rs62015677	0.90[ASN][1000 genomes]
rs7146753	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7158282	1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7161482	0.90[ASN][1000 genomes]
rs8006076	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs8007036	0.90[ASN][1000 genomes]
rs9322999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9805937	1.00[CHB][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39903000-39916400	Weak transcription	Fetal Heart	heart
2	chr14:39911600-39918000	Weak transcription	Gastric	stomach
3	chr14:39911800-39916400	Weak transcription	Lung	lung
4	chr14:39915000-39916800	Flanking Active TSS	GM12878-XiMat	blood
5	chr14:39915000-39918200	Enhancers	Rectal Mucosa Donor 31	rectum

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