Variant report

Variant	rs12878116
Chromosome Location	chr14:21321769-21321770
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	chr14:21316787..21319141-chr14:21320806..21323371,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10139443	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10140301	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144045	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10148191	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10148209	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11845945	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11850614	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17182206	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17254436	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17254450	0.87[ASN][1000 genomes]
rs17254457	0.86[ASN][1000 genomes]
rs1889771	0.86[ASN][1000 genomes]
rs1889772	0.86[ASN][1000 genomes]
rs28398970	0.86[ASN][1000 genomes]
rs28429822	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28446693	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28522687	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28580637	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61978607	0.86[ASN][1000 genomes]
rs68014001	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8011501	0.86[ASN][1000 genomes]
rs8011664	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8014985	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016193	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8020174	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs983671	0.83[AMR][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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
7	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21317200-21323800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr14:21317200-21325800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:21317400-21326000	Weak transcription	Fetal Intestine Small	intestine
4	chr14:21317800-21321800	Weak transcription	Psoas Muscle	Psoas
5	chr14:21317800-21323600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:21317800-21323600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:21317800-21325800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:21318000-21323600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:21318000-21323600	Weak transcription	Brain Angular Gyrus	brain
10	chr14:21318000-21323600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:21318000-21325600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:21318400-21323400	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:21321200-21322000	Enhancers	Lung	lung
14	chr14:21321600-21323200	Weak transcription	A549	lung

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