Variant report

Variant	rs74030459
Chromosome Location	chr16:80839534-80839535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:80835765-80839771	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:80625101..80626775-chr16:80839502..80841949,2	MCF-7	breast:
2	chr16:80839103..80839861-chr16:80858662..80859582,2	K562	blood:
3	chr16:80836730..80839628-chr16:80867393..80871297,3	MCF-7	breast:
4	chr16:80838427..80840322-chr16:80885425..80887354,2	MCF-7	breast:

Variant related genes	Relation type
CDYL2	TF binding region
ENSG00000260896	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61153381	0.83[AMR][1000 genomes]
rs7193908	0.83[AMR][1000 genomes]
rs7197605	0.83[AMR][1000 genomes]
rs74030451	0.83[AMR][1000 genomes]
rs74030452	0.83[AMR][1000 genomes]
rs74030453	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv457560	chr16:80825206-80858143	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv573302	chr16:80825206-80858143	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv3376994	chr16:80836476-80839824	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv3439821	chr16:80836901-80839624	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80838200-80840400	Weak transcription	NHDF-Ad	bronchial
2	chr16:80839000-80840400	Weak transcription	HSMMtube	muscle
3	chr16:80839000-80840400	Enhancers	HUVEC	blood vessel
4	chr16:80839000-80840400	Weak transcription	NH-A	brain
5	chr16:80839200-80839600	Enhancers	Primary hematopoietic stem cells	blood
6	chr16:80839200-80839600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr16:80839200-80839600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:80839200-80840200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr16:80839200-80840200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr16:80839200-80840200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:80839200-80840200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:80839200-80840200	Weak transcription	NHEK	skin
13	chr16:80839200-80840400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr16:80839200-80840400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:80839200-80840400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr16:80839200-80840400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:80839200-80840400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:80839200-80840400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:80839200-80840400	Weak transcription	HSMM	muscle
20	chr16:80839200-80840400	Weak transcription	Osteobl	bone
21	chr16:80839200-80840600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:80839200-80840600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:80839200-80840800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:80839200-80841400	Weak transcription	Placenta	Placenta
25	chr16:80839200-80841600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr16:80839200-80843400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:80839400-80839800	Weak transcription	Brain Anterior Caudate	brain
28	chr16:80839400-80840400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:80839400-80840400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:80839400-80840400	Enhancers	Hela-S3	cervix
31	chr16:80839400-80840600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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