Variant report

Variant	rs74065171
Chromosome Location	chr14:82149345-82149346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17115727	1.00[AMR][1000 genomes]
rs57354905	1.00[AMR][1000 genomes]
rs60404476	1.00[AMR][1000 genomes]
rs60994561	1.00[AMR][1000 genomes]
rs74065153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74065207	1.00[AMR][1000 genomes]
rs74065261	1.00[AMR][1000 genomes]
rs74066208	1.00[AMR][1000 genomes]
rs74066209	1.00[AMR][1000 genomes]
rs74066223	1.00[AMR][1000 genomes]
rs74066225	1.00[AMR][1000 genomes]
rs74066227	1.00[AMR][1000 genomes]
rs74066230	1.00[AMR][1000 genomes]
rs74066241	1.00[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	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv565299	chr14:81983027-82586324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1052666	chr14:82069162-83028382	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1037114	chr14:82123315-82241676	Bivalent Enhancer Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv523456	chr14:82136840-82172384	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv521291	chr14:82136840-82174341	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82146200-82149600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr14:82147400-82149600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr14:82147400-82149800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr14:82147600-82149600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
5	chr14:82147800-82149800	Enhancers	Fetal Muscle Leg	muscle
6	chr14:82148000-82152600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:82148600-82152600	Weak transcription	Fetal Heart	heart
8	chr14:82148600-82152800	Weak transcription	Fetal Brain Male	brain
9	chr14:82148800-82152400	Weak transcription	Fetal Brain Female	brain
10	chr14:82149000-82149400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
11	chr14:82149200-82149400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr14:82149200-82149400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr14:82149200-82149400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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