Variant report

Variant	rs74030462
Chromosome Location	chr16:80841294-80841295
allele	A/G
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	chr16:80840717-80841305	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr16:80840758-80841421	HUVEC	blood vessel:	n/a	n/a
3	JUN	chr16:80840412-80841457	HUVEC	blood vessel:	n/a	chr16:80841335-80841343
4	POLR2A	chr16:80840239-80841531	HUVEC	blood vessel:	n/a	n/a
5	NFIC	chr16:80840823-80841336	GM12878	blood:	n/a	chr16:80841082-80841110
6	POLR2A	chr16:80840421-80841451	Hela-S3	cervix:	n/a	n/a
7	ELK1	chr16:80840860-80841532	Hela-S3	cervix:	n/a	n/a
8	FOS	chr16:80840240-80841511	HUVEC	blood vessel:	n/a	chr16:80841335-80841343
9	POLR2A	chr16:80840464-80841540	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:80625101..80626775-chr16:80839502..80841949,2	MCF-7	breast:
2	chr16:80841138..80843901-chr16:80845337..80848093,3	MCF-7	breast:
3	chr16:80840133..80841799-chr16:80886002..80888240,2	K562	blood:
4	chr16:80841190..80844369-chr16:80857041..80859496,3	MCF-7	breast:

Variant related genes	Relation type
CDYL2	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11150315	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11150316	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11643914	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12443565	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12444243	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12444274	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12446476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12446987	0.83[AMR][1000 genomes]
rs1544804	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547990	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34450250	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34502201	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34638446	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35690046	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6564792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72820985	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74030456	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74030461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74030463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74030464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74030466	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74030467	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8052178	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8053834	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8053858	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8058727	0.99[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80839200-80841400	Weak transcription	Placenta	Placenta
2	chr16:80839200-80841600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:80839200-80843400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr16:80840000-80841600	Enhancers	Primary hematopoietic stem cells	blood
5	chr16:80840000-80842000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:80840200-80841600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:80840400-80841400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:80840400-80841400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr16:80840400-80841400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:80840400-80841600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr16:80840400-80841600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:80840400-80841800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:80840400-80842200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:80840400-80842600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr16:80841000-80841400	Enhancers	HUVEC	blood vessel
16	chr16:80841000-80841400	Enhancers	NH-A	brain
17	chr16:80841000-80841400	Enhancers	NHEK	skin
18	chr16:80841000-80841600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:80841000-80845200	Enhancers	Hela-S3	cervix
20	chr16:80841200-80841600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr16:80841200-80841600	Enhancers	Monocytes-CD14+_RO01746	blood

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