Variant report

Variant	rs71412693
Chromosome Location	chr14:56209043-56209044
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	chr14:56207915..56209917-chr14:56216169..56218035,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10483645	1.00[AFR][1000 genomes]
rs10483646	1.00[AFR][1000 genomes]
rs10483648	1.00[AFR][1000 genomes]
rs10483650	1.00[AFR][1000 genomes]
rs12886406	1.00[AFR][1000 genomes]
rs12892022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253716	1.00[AFR][1000 genomes]
rs17253723	1.00[AFR][1000 genomes]
rs17253744	1.00[AFR][1000 genomes]
rs17683614	1.00[AFR][1000 genomes]
rs17685078	1.00[AFR][1000 genomes]
rs17685102	1.00[AFR][1000 genomes]
rs17832371	1.00[AFR][1000 genomes]
rs17832389	1.00[AFR][1000 genomes]
rs2147114	1.00[AFR][1000 genomes]
rs34039141	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536987	1.00[AFR][1000 genomes]
rs3736876	1.00[AFR][1000 genomes]
rs45458197	1.00[AFR][1000 genomes]
rs45501402	1.00[AFR][1000 genomes]
rs71412688	1.00[AFR][1000 genomes]
rs71412689	1.00[AFR][1000 genomes]
rs71412690	1.00[AFR][1000 genomes]
rs71413577	1.00[AFR][1000 genomes]
rs71413578	1.00[AFR][1000 genomes]
rs7150841	1.00[AFR][1000 genomes]
rs8007065	1.00[AFR][1000 genomes]
rs8008528	1.00[AFR][1000 genomes]
rs8009239	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901967	chr14:56183127-56252062	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv901968	chr14:56183127-56256651	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv901969	chr14:56183127-56258997	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv901970	chr14:56183127-56265176	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv901971	chr14:56183127-56265176	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv901972	chr14:56185501-56256651	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv901973	chr14:56185908-56252062	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv901974	chr14:56192577-56252062	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv901975	chr14:56192577-56260033	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv901976	chr14:56192577-56265176	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56198600-56219400	Weak transcription	Gastric	stomach
2	chr14:56204000-56211400	Weak transcription	Thymus	Thymus
3	chr14:56206600-56209800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:56207400-56211000	Weak transcription	Fetal Intestine Large	intestine
5	chr14:56207400-56211600	Weak transcription	Fetal Intestine Small	intestine
6	chr14:56207400-56216000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:56207800-56213200	Weak transcription	Fetal Kidney	kidney
8	chr14:56208000-56214000	Weak transcription	Pancreas	Pancrea
9	chr14:56208000-56216200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:56208000-56221400	Weak transcription	Aorta	Aorta
11	chr14:56208200-56209200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:56208200-56216000	Weak transcription	Right Ventricle	heart
13	chr14:56208800-56209800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:56209000-56209200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:56209000-56209400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:56209000-56209400	Enhancers	Fetal Thymus	thymus
17	chr14:56209000-56209800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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